NUTRITIONAL NUTRITIONAL DISORDERS IDISORDERS I

Myrna D.C. San Pedro, MD, FPPSMyrna D.C. San Pedro, MD, FPPS

MALNUTRITIONMALNUTRITION

A pathological state resulting from a A pathological state resulting from a relative or absolute deficiency or relative or absolute deficiency or excess of one or more essential excess of one or more essential nutrients; clinically manifested or nutrients; clinically manifested or detected only by biochemical, detected only by biochemical, anthropometric or physiological anthropometric or physiological tests.tests.

Forms of MalnutritionForms of Malnutrition

1.1. Undernutrition:Undernutrition: Marasmus Marasmus

2.2. Overnutrition:Overnutrition: Obesity, Obesity, HypervitaminosesHypervitaminoses

3.3. Specific Deficiency:Specific Deficiency: Kwashiorkor, Kwashiorkor, Hypovitaminoses, Hypovitaminoses,

Mineral DeficienciesMineral Deficiencies

4.4. Imbalance:Imbalance: Electrolyte Imbalance Electrolyte Imbalance

ETIOLOGYETIOLOGY

Classification of UndernutritionClassification of Undernutrition

1.1. Gomez Classification:Gomez Classification: uses uses weight-for-age measurements; weight-for-age measurements; provide grading as to prognosisprovide grading as to prognosisWeight-for-Age%Weight-for-Age% StatusStatus

91-10091-100 NormalNormal76-9076-90 11stst degree degree61-7561-75 22ndnd degree degree<60<60 33rdrd degree degree

2.2. Wellcome Classification:Wellcome Classification: simple since simple since based on 2 criteria only - wt loss in based on 2 criteria only - wt loss in terms of wt for age% & presence or terms of wt for age% & presence or absence of edemaabsence of edema

Wt-for-Age%Wt-for-Age% EdemaEdema No EdemaNo Edema

80-6080-60 KwashiorkorKwashiorkor UndernutritionUndernutrition

< 60< 60 Marasmic-Marasmic- MarasmusMarasmus

KwashiorkorKwashiorkor

3.3. Waterlow Classification:Waterlow Classification: adopted by adopted by WHO; can distinguish between deficits WHO; can distinguish between deficits of weight-for-height% (wasting) & of weight-for-height% (wasting) & height-for-age% (stunting)height-for-age% (stunting)

NN MildMild ModMod SevereSevere

Ht-for-Age%Ht-for-Age% >95>95 90-95 90-95 80-90 <8080-90 <80

Wt-for-Ht%Wt-for-Ht% >90>90 80-89 70-79 <70 80-89 70-79 <70

Protein Energy Malnutrition Protein Energy Malnutrition IcebergIceberg

MarasmusMarasmus Common in the 1st Common in the 1st

year of lifeyear of lifeEtiology:Etiology: ““Balanced Balanced

starvation”starvation” Insufficient Insufficient

breastmilkbreastmilk Dilute milk mixture Dilute milk mixture

or lack of hygieneor lack of hygiene

MarasmusMarasmusClinical Manifestations:Clinical Manifestations:1.1. WastingWasting2.2. Muscle wastingMuscle wasting3.3. Growth retardationGrowth retardation4.4. Mental changesMental changes5.5. No edemaNo edema6.6. Variable-subnormal Variable-subnormal

temp, slow PR, good temp, slow PR, good appetite, often appetite, often w/diarrhea, etc.w/diarrhea, etc.

Laboratory Data:Laboratory Data:1.1. Serum albumin NSerum albumin N2.2. Urinary urea/ gm Urinary urea/ gm

crea Ncrea N

3.3. Urinary hydroxyproline/ Urinary hydroxyproline/ gm crea low, earlygm crea low, early

4.4. Serum essential a.a. Serum essential a.a. index Nindex N

5.5. Anemia uncommonAnemia uncommon6.6. Glucose tolerance Glucose tolerance

curves diabetic typecurves diabetic type7.7. KK+ + deficiency presentdeficiency present8.8. Serum cholesterol lowSerum cholesterol low9.9. Diminished enzyme Diminished enzyme

activityactivity10.10. Bone growth delayedBone growth delayed11.11. Liver biopsy N or Liver biopsy N or

atrophicatrophic

KwashiorkorKwashiorkor Between 1-3 yrs oldBetween 1-3 yrs old

Etiology:Etiology: Very low protein but Very low protein but

w/calories from CHOw/calories from CHO In places where In places where

starchy foods are starchy foods are main staplemain staple

Never exclusively Never exclusively dietarydietary

KwashiorkorKwashiorkor

Clinical Manifestations:Clinical Manifestations:

A.A. Diagnostic SignsDiagnostic Signs

1.1. EdemaEdema

2.2. Muscle wastingMuscle wasting

3.3. Psychomotor changesPsychomotor changes

B.B. Common SignsCommon Signs

1.1. Hair changesHair changes

2.2. Diffuse Diffuse depigmentation of skindepigmentation of skin

3.3. MoonfaceMoonface

4.4. AnemiaAnemia

C.C. Occasional Signs:Occasional Signs:1.1. Flaky-paint rashFlaky-paint rash2.2. NomaNoma3.3. HepatomegalyHepatomegaly4.4. AssociatedAssociated

Laboratory:Laboratory:1.1. Decreased serum Decreased serum

albuminalbumin2.2. EEG abnomalitiesEEG abnomalities3.3. Iron & folic acid Iron & folic acid

deficienciesdeficiencies4.4. Liver biopsy fatty or Liver biopsy fatty or

fibrosis may occurfibrosis may occur

KwashiorkorKwashiorkor

Treatment of PEMTreatment of PEM1.1. Severe PEM is an emergency, Severe PEM is an emergency,

hospitalization 1-3 mo desirablehospitalization 1-3 mo desirable

2.2. On admission, treat vitamin deficiencies, On admission, treat vitamin deficiencies, dehydration & associated infectionsdehydration & associated infections

3.3. In the acute phase, feeding started as In the acute phase, feeding started as soon as rehydrated & when edema is lost, soon as rehydrated & when edema is lost, full-strength feeds given with maintenance full-strength feeds given with maintenance calories & protein; recovery after 2-3 wkscalories & protein; recovery after 2-3 wks

4.4. Rehabilitation with high energy feeds (150-Rehabilitation with high energy feeds (150-200 kcal/kg/day) started once full-strength 200 kcal/kg/day) started once full-strength feeds tolerated; recovery expected within feeds tolerated; recovery expected within 4-6 wks on high energy feeds4-6 wks on high energy feeds

Prognosis of PEMPrognosis of PEM Permanent impairment of physical & Permanent impairment of physical &

mental growth if severe & occurs early mental growth if severe & occurs early especially before 6 months oldespecially before 6 months old

First 48 hours critical, with poor First 48 hours critical, with poor treatment mortality may exceed 50%treatment mortality may exceed 50%

Even with thorough treatment, 10% Even with thorough treatment, 10% mortality may still occurmortality may still occur

Some mortality causes are endocrine, Some mortality causes are endocrine, cardiac or liver failure, electrolyte cardiac or liver failure, electrolyte imbalance, hypoglycemia & hypothermiaimbalance, hypoglycemia & hypothermia

ObesityObesity1.1. Definition:Definition: Generalized, excessive accumulation of Generalized, excessive accumulation of

fat in subcutaneous & other tissuesfat in subcutaneous & other tissues

2.2. Classification according to “desirable” weight Classification according to “desirable” weight standard:standard: Overweight ~ Overweight ~ >>10% while Obese ~ 10% while Obese ~ >>20%20%

3.3. The Centers for Disease Control (CDC)The Centers for Disease Control (CDC) avoids using avoids using "obesity" instead suggest "obesity" instead suggest two levels of overweight:two levels of overweight: 85th percentile of BMI ~ "at risk" level & 95th 85th percentile of BMI ~ "at risk" level & 95th percentile of BMI ~ the more severe levelpercentile of BMI ~ the more severe level

4.4. The American Obesity AssociationThe American Obesity Association uses: The 85th uses: The 85th percentile of BMI for overweight because ~ BMI of percentile of BMI for overweight because ~ BMI of 25, overweight for adults and the 95th percentile of 25, overweight for adults and the 95th percentile of BMI for obesity because ~ BMI of 30, the marker for BMI for obesity because ~ BMI of 30, the marker for obesity in adultsobesity in adults

ObesityObesity Appears most frequently in the 1st Appears most frequently in the 1st

year, 5-6 years & adolescenceyear, 5-6 years & adolescenceEtiology:Etiology: Excessive intake of food compared Excessive intake of food compared

w/ utilizationw/ utilization Genetic constitutionGenetic constitution Psychic disturbance Psychic disturbance Endocrine & metabolic disturbances Endocrine & metabolic disturbances

rarerare Insufficient exercise or lack of Insufficient exercise or lack of

activity activity

ObesityObesityClinical Manifestations:Clinical Manifestations:1.1. Fine facial features on a heavy-looking taller Fine facial features on a heavy-looking taller

childchild2.2. Larger upper arms & thighsLarger upper arms & thighs3.3. Genu valgum commonGenu valgum common4.4. Relatively small hands & fingers taperingRelatively small hands & fingers tapering5.5. Adiposity in mammary regionsAdiposity in mammary regions6.6. Pendulous abdomen w/ striaePendulous abdomen w/ striae7.7. In boys, external genitalia appear small In boys, external genitalia appear small

though actually average in sizethough actually average in size8.8. In girls, external genitalia normal & In girls, external genitalia normal &

menarche not delayedmenarche not delayed9.9. Psychologic disturbances commonPsychologic disturbances common10.10. Bone age advancedBone age advanced

ObesityObesity

Treatment of ObesityTreatment of ObesityA.A. 11stst principle: decrease energy intake principle: decrease energy intake

1.1. Initial med exam to R/O pathological causesInitial med exam to R/O pathological causes2.2. 3-day food recall to itemize child’s diet3-day food recall to itemize child’s diet3.3. Plan the right dietPlan the right diet

a.a. Avoid all sweets, fried foods & fatsAvoid all sweets, fried foods & fatsb.b. Limit milk intake to not >2 glasses/dayLimit milk intake to not >2 glasses/dayc.c. For 10-14 yrs, limit to 1,100-1300 cal diet For 10-14 yrs, limit to 1,100-1300 cal diet

for several monthsfor several months4.4. Child must be properly motivated & family Child must be properly motivated & family

involvement essentialinvolvement essentialB.B. 22ndnd principle: increase energy output principle: increase energy output

1.1. Obtain an activity historyObtain an activity history2.2. Increase physical activityIncrease physical activity3.3. Involve in hobbies to prevent boredomInvolve in hobbies to prevent boredom

Complication of ObesityComplication of ObesityPickwickian SyndromePickwickian Syndrome Rare complication of extreme Rare complication of extreme

exogenous obesityexogenous obesity Severe cardiorespiratory distress & Severe cardiorespiratory distress &

alveolar hypoventilationalveolar hypoventilation Includes polycythemia, hypoxemia, Includes polycythemia, hypoxemia,

cyanosis, CHF & somnolencecyanosis, CHF & somnolence High OHigh O22 conc dangerous in cyanosis conc dangerous in cyanosis Weight reduction ASAP & quickWeight reduction ASAP & quick

The The Energy-Releasing Energy-Releasing

VitaminsVitamins

Thiamine, Riboflavin, Niacin, PyridoxineThiamine, Riboflavin, Niacin, Pyridoxine are cofactors to enzymes in energy metabolism, are cofactors to enzymes in energy metabolism, hence, deficiencies show up in quickly growing hence, deficiencies show up in quickly growing tissues such as epithelium.tissues such as epithelium.

Typical symptoms for Typical symptoms for the group include:the group include:

DermatitisDermatitis GlossitisGlossitis CheilitisCheilitis DiarrheaDiarrhea

Nerve cells use lots of Nerve cells use lots of energy, so symptoms energy, so symptoms also show up in the also show up in the nervous tissue: nervous tissue:

Peripheral neuropathyPeripheral neuropathy DepressionDepression Mental confusionMental confusion Lack of motor Lack of motor

coordinationcoordination MalaiseMalaise

Thiamine (Vitamin B1) Deficiency Thiamine (Vitamin B1) Deficiency BeriberiBeriberi

Pathology:Pathology:Biochemically, there is accumulation of pyruvic Biochemically, there is accumulation of pyruvic and lactic acid in body fluids causing:and lactic acid in body fluids causing:

1.1. Cardiac dysfunction such as cardiac enlargement Cardiac dysfunction such as cardiac enlargement esp right side, edema of interstitial tissue & fatty esp right side, edema of interstitial tissue & fatty degeneration of myocardiumdegeneration of myocardium

2.2. Degeneration of myelin & of axon cylinders Degeneration of myelin & of axon cylinders resulting in peripheral neuropathy and resulting in peripheral neuropathy and

3.3. In chronic deficiency states, vascular dilatation & In chronic deficiency states, vascular dilatation & brain hemorrhages of Wernicke’s Disease, brain hemorrhages of Wernicke’s Disease, resulting in weakness of eye movement, ataxia of resulting in weakness of eye movement, ataxia of gait and mental disturbancegait and mental disturbance

Thiamine Deficiency (Beriberi)Thiamine Deficiency (Beriberi)Three forms:Three forms:1.1. Wet beriberi:Wet beriberi: generalized edema, acute cardiac generalized edema, acute cardiac

symptoms and prompt response to thiamine symptoms and prompt response to thiamine administrationadministration

2.2. Dry beriberi:Dry beriberi: edema not present, condition similar edema not present, condition similar to peripheral neuritis w/ neurological disorders to peripheral neuritis w/ neurological disorders presentpresent

3.3. Infantile beriberiInfantile beriberi divided into: divided into:a.a. Acute cardiacAcute cardiac - ages 2-4 months; sudden onset - ages 2-4 months; sudden onset

of cardiac s/sx such as cyanosis, dyspnea, of cardiac s/sx such as cyanosis, dyspnea, systolic murmur & pulmonary edema w/ ralessystolic murmur & pulmonary edema w/ rales

b.b. AphonicAphonic - ages 5-7 months; insidious onset of - ages 5-7 months; insidious onset of hoarseness, dysphonia or aphoniahoarseness, dysphonia or aphonia

c.c. PseudomeningealPseudomeningeal - ages 8-10 months; signs of - ages 8-10 months; signs of meningeal irritation w/ apathy, drowsiness & meningeal irritation w/ apathy, drowsiness & even unconsciousness; occurs more ofteneven unconsciousness; occurs more often

Thiamine Deficiency (Beriberi)Thiamine Deficiency (Beriberi)

Diagnosis:Diagnosis:1.1. Clinical manifestations not Clinical manifestations not

conclusiveconclusive2.2. Therapeutic test w/ Therapeutic test w/

parenteral thiamine = parenteral thiamine = dramatic improvementdramatic improvement

3.3. Blood lactic & pyruvic acid Blood lactic & pyruvic acid levels elevated after oral levels elevated after oral load of glucoseload of glucose

4.4. Decreased red cell Decreased red cell hemolysate transketolasehemolysate transketolase

RDA:RDA: Infants 0.4mg Infants 0.4mg Older children 0.6-Older children 0.6-

1.2mg 1.2mg Nursing Nursing mothers 1.5mgmothers 1.5mg

Adults 1-1.3mgAdults 1-1.3mg

Prevention:Prevention:1.1. Richest sources are pork, Richest sources are pork,

whole grain, enriched cereal whole grain, enriched cereal grains and legumesgrains and legumes

2.2. Improved milling of rice Improved milling of rice conserve thiamineconserve thiamine

3.3. Excessive cooking of Excessive cooking of vegetables or polishing of vegetables or polishing of cereals destroycereals destroy

4.4. In breast-fed infants, In breast-fed infants, prevention achieved by prevention achieved by maternal diet w/ sufficient maternal diet w/ sufficient amountsamounts

Treatment:Treatment:1.1. Children: 10mg p. o. daily Children: 10mg p. o. daily

for several weeksfor several weeks2.2. Adults 50mg Adults 50mg

Thiamine Deficiency Thiamine Deficiency (Beriberi)(Beriberi)

Thiamine Deficiency (Beriberi)Thiamine Deficiency (Beriberi)

Riboflavin (Vitamin B2) Riboflavin (Vitamin B2) DeficiencyDeficiency

Functions:Functions:1.1. Acts as coenzyme of flavoprotein important in a. Acts as coenzyme of flavoprotein important in a.

a., f. a. & CHO metabolism & cellular respirationa., f. a. & CHO metabolism & cellular respiration2.2. Needed also by retinal eye pigments for light Needed also by retinal eye pigments for light

adaptationadaptationClinical Manifestations:Clinical Manifestations:1.1. Characteristic lesions of the lips, the most common Characteristic lesions of the lips, the most common

of which are angular stomatitis and cheilosis of which are angular stomatitis and cheilosis 2.2. Localized seborrheic dermatitis of the face may Localized seborrheic dermatitis of the face may

result such as nasolabial seborrhea or dyssebacia result such as nasolabial seborrhea or dyssebacia and angular palpebritisand angular palpebritis

3.3. Scrotal or vulvar dermatosis may also occurScrotal or vulvar dermatosis may also occur4.4. Ocular s/sx are photophobia, blurred vision, itching Ocular s/sx are photophobia, blurred vision, itching

of the eyes, lacrimation & corneal vascularizationof the eyes, lacrimation & corneal vascularization

Riboflavin DeficiencyRiboflavin DeficiencyDiagnosis:Diagnosis:1.1. Urinary riboflavin determinationUrinary riboflavin determination2.2. RBC riboflavin load testRBC riboflavin load testRDA:RDA: Infants & children <10yrs 0.6-1.4mgInfants & children <10yrs 0.6-1.4mg

Children >10yrs 1.4-2mg depending on food intakeChildren >10yrs 1.4-2mg depending on food intakeAdults 0.025mg/gm dietary proteinAdults 0.025mg/gm dietary protein

Prevention:Prevention:1.1. Best sources: eggs, liver, meat, fish, milk, whole or Best sources: eggs, liver, meat, fish, milk, whole or

enriched ground cereals, legumes, green leafy enriched ground cereals, legumes, green leafy vegetablesvegetables

2.2. Also present in beerAlso present in beer3.3. Impaired absorption in achlorhydria, diarrhea & Impaired absorption in achlorhydria, diarrhea &

vomitingvomitingTreatment:Treatment:1.1. Riboflavin 2-5mg p. o. daily w/ increased B Riboflavin 2-5mg p. o. daily w/ increased B

complexcomplex2.2. Parenteral administration Parenteral administration ifif relief not obtained relief not obtained

Riboflavin DeficiencyRiboflavin Deficiency

Niacin (Vitamin B3) Deficiency Niacin (Vitamin B3) Deficiency PellagraPellagra

Etiology:Etiology:1.1. Diets low in niacin &/or tryptophanDiets low in niacin &/or tryptophan2.2. Amino acid imbalance or as a result of malabsorptionAmino acid imbalance or as a result of malabsorption3.3. Excessive corn consumptionExcessive corn consumptionClinical Manifestations:Clinical Manifestations:1.1. Start w/ anorexia, weakness, irritability, numbness & dizzinessStart w/ anorexia, weakness, irritability, numbness & dizziness2.2. Classical triad of dermatitis, diarrhea & dementiaClassical triad of dermatitis, diarrhea & dementia3.3. Dermatitis may develop insidiously to sunlight or heatDermatitis may develop insidiously to sunlight or heat

a.a. First appears as symmetrical erythemaFirst appears as symmetrical erythemab.b. Followed by drying, scaling & pigmentation w/ vesicles & Followed by drying, scaling & pigmentation w/ vesicles &

bullae at timesbullae at timesc.c. Predilection for back of hands, wrists, forearms (pellagrous Predilection for back of hands, wrists, forearms (pellagrous

glove), neck (Casal’s necklace) & lower legs (pellagrous glove), neck (Casal’s necklace) & lower legs (pellagrous boot)boot)

4.4. GIT s/sx are diarrhea, stomatitis or glossitis; feces pale, foul GIT s/sx are diarrhea, stomatitis or glossitis; feces pale, foul milky, soapy or at times steatorrheicmilky, soapy or at times steatorrheic

5.5. Mental changes include depression, irritability, disorientation, Mental changes include depression, irritability, disorientation, insomnia & deliriuminsomnia & delirium

Niacin Deficiency (Pellagra)Niacin Deficiency (Pellagra)

Diagnosis:Diagnosis:1.1. History & manifestations of diet poor in niacin or History & manifestations of diet poor in niacin or

tryptophantryptophan2.2. In niacin deficiency, urinary levels of N-methyl-In niacin deficiency, urinary levels of N-methyl-

nicotinamide low or absentnicotinamide low or absentDifferential diagnoses:Differential diagnoses: Kwashiorkor, Infantile Eczema, Kwashiorkor, Infantile Eczema,

Combination deficiencies of amino acids & trace minerals Combination deficiencies of amino acids & trace minerals such as zincsuch as zinc

RDA:RDA: Infants & children <10yrs 6-10mgInfants & children <10yrs 6-10mgOlder individuals 10-20mgOlder individuals 10-20mg

Prevention:Prevention:1.1. Rich sources include meat, peanuts and legumes, whole Rich sources include meat, peanuts and legumes, whole

grain and enriched breads and cerealsgrain and enriched breads and cereals2.2. Avoid too large a proportion of cornAvoid too large a proportion of cornTreatment:Treatment:1.1. Niacin 50-300mg daily which may be taken for a long timeNiacin 50-300mg daily which may be taken for a long time2.2. Skin lesions may be covered w/ soothing lotionsSkin lesions may be covered w/ soothing lotions

Niacin Deficiency Niacin Deficiency (Pellagra)(Pellagra)

Pyridoxine (Vitamin B6) Pyridoxine (Vitamin B6) DeficiencyDeficiency

Functions: Functions: 1.1. Vitamin B6 is involved in the synthesis and Vitamin B6 is involved in the synthesis and

catabolism of amino acids, synthesis of catabolism of amino acids, synthesis of neurotransmitters, porphyrins and niacinneurotransmitters, porphyrins and niacin

2.2. Plays important role in clinical conditions such Plays important role in clinical conditions such as anemia, hyperemesis gravidarum, cardiac as anemia, hyperemesis gravidarum, cardiac decompensation, radiation effects, skin grafting, decompensation, radiation effects, skin grafting, INH therapy & seborrheic dermatitisINH therapy & seborrheic dermatitis

Etiology:Etiology:1.1. Losses from refining, processing, cooking & Losses from refining, processing, cooking &

storingstoring2.2. Malabsorptive diseases such as celiac disease Malabsorptive diseases such as celiac disease

may contributemay contribute3.3. Direct antagonism might occur between INH & Direct antagonism might occur between INH &

pyridoxal phosphate at the apoenzyme levelpyridoxal phosphate at the apoenzyme level

Pyridoxine DeficiencyPyridoxine DeficiencyClinical Manifestations:Clinical Manifestations:1.1. Three different typesThree different types

a.a. Neuropathic, due to insufficient Neuropathic, due to insufficient neurotransmitter synthesis, such as neurotransmitter synthesis, such as irritability, depression & somnolenceirritability, depression & somnolence

b.b. Pellagrous, due to low endogenous niacin Pellagrous, due to low endogenous niacin synthesis, such as seborrheic dermatitis, synthesis, such as seborrheic dermatitis, intertrigo, angular stomatitis & glossitisintertrigo, angular stomatitis & glossitis

c.c. Anemic, due to low porphyrin synthesis, Anemic, due to low porphyrin synthesis, such as microcytic anemia & lymphopenia such as microcytic anemia & lymphopenia

2.2. In genetic diseases involving pyridoxal In genetic diseases involving pyridoxal phosphate enzymes also xanthurenic aciduria, phosphate enzymes also xanthurenic aciduria, cystathioninuria & homocystinuriacystathioninuria & homocystinuria

Pyridoxine DeficiencyPyridoxine Deficiency

Diagnosis:Diagnosis: As screening test, tryptophan load test done - As screening test, tryptophan load test done -100mg/kg BW tryptophan will give large amount of 100mg/kg BW tryptophan will give large amount of xanthurenic acid in urinexanthurenic acid in urine

Prevention:Prevention:1.1. Firm requirement not established but usually recommended: Firm requirement not established but usually recommended:

Infant 0.1-0.5mg, Child 0.5-1.5mg & Adult 1.5-2mgInfant 0.1-0.5mg, Child 0.5-1.5mg & Adult 1.5-2mg2.2. Rich sources include yeast, whole wheat, corn, egg yolk, liver Rich sources include yeast, whole wheat, corn, egg yolk, liver

and lean meatand lean meat3.3. Toxicity at extremely high doses has been described; infants Toxicity at extremely high doses has been described; infants

whose mothers received large doses during pregnancy should whose mothers received large doses during pregnancy should be observed for seizures due to dependencybe observed for seizures due to dependency

4.4. Children receiving INH therapy should be observed for Children receiving INH therapy should be observed for neurologic s/sx in w/c case pyridoxine should be givenneurologic s/sx in w/c case pyridoxine should be given

Treatment:Treatment:1.1. Pyridoxine 100mg IM injection for seizures due to deficiencyPyridoxine 100mg IM injection for seizures due to deficiency2.2. Children w/ pyridoxine dependency should be given 2-10mg Children w/ pyridoxine dependency should be given 2-10mg

IM injection or 10-100mg oral vitamin B6 IM injection or 10-100mg oral vitamin B6

The The Hematopoietic Hematopoietic

VitaminsVitamins

Folic Acid (Vitamin B9) DeficiencyFolic Acid (Vitamin B9) DeficiencyFunctions:Functions:1.1. Needed for RBC & DNA Needed for RBC & DNA

formation, cell multiplication formation, cell multiplication esp. GI cellsesp. GI cells

2.2. Newly discovered functions:Newly discovered functions:a.a. Prevents neural tube Prevents neural tube

defectsdefectsb.b. Prevents heart disease Prevents heart disease

(reduces homocysteine (reduces homocysteine levels)levels)

c.c. Prevents colon cancerPrevents colon cancerEtiology:Etiology: Peak incidence 4-7 monthsPeak incidence 4-7 months Deficient dietary intake: Deficient dietary intake:

goat’s milk deficient & goat’s milk deficient & powdered milk poor sourcepowdered milk poor source

Deficient absorption as in Deficient absorption as in celiac disease, achlorhydria, celiac disease, achlorhydria, anticonvulsant drugs, zinc anticonvulsant drugs, zinc deficiency & bacterial deficiency & bacterial overgrowthovergrowth

Impaired metabolism w/ Impaired metabolism w/ ascorbic acid deficiency, ascorbic acid deficiency, hypothyroidism, drugs like hypothyroidism, drugs like trimethoprim & alcoholismtrimethoprim & alcoholism

Increased requirement Increased requirement during rapid growth & during rapid growth & infectioninfection

Increased excretion/loss Increased excretion/loss may occur subsequent to may occur subsequent to vitamin B12 deficiency & vitamin B12 deficiency & chronic alcoholismchronic alcoholism

Increased destruction Increased destruction possible in cigarette possible in cigarette smokingsmoking

Folic Acid DeficiencyFolic Acid Deficiency

Clinical Manifestations:Clinical Manifestations:1.1. Megaloblastic anemia w/ Megaloblastic anemia w/

irritability, failure to gain wt irritability, failure to gain wt & chronic diarrhea& chronic diarrhea

2.2. Thrombocytopenic Thrombocytopenic hemorrhages advanced hemorrhages advanced casescases

3.3. Scurvy may be presentScurvy may be presentLaboratory Findings:Laboratory Findings:1.1. Anemia macrocytic Anemia macrocytic 2.2. Serum folic acid <3ng/ml, Serum folic acid <3ng/ml,

normal level=5-20ng/mlnormal level=5-20ng/ml3.3. RBC folate levels indicator RBC folate levels indicator

of chronic deficiency, of chronic deficiency, normal level=150-600ng/mlnormal level=150-600ng/ml

4.4. Serum iron & vitamin B12 Serum iron & vitamin B12 normal or elevated normal or elevated

6.6. Formiminoglutamic acid in Formiminoglutamic acid in urine esp after oral histidineurine esp after oral histidine

7.7. Serum LDH markedly highSerum LDH markedly high8.8. Bone marrow hypercellularBone marrow hypercellularRDA:RDA: 20-50mcg/24 hrs 20-50mcg/24 hrsTreatment:Treatment:1.1. Parenteral folic acid Parenteral folic acid

2-5mg/24 hrs, response in 72 2-5mg/24 hrs, response in 72 hrs, therapy for 3-4 wkshrs, therapy for 3-4 wks

2.2. Transfusions only when Transfusions only when anemia severeanemia severe

3.3. Satisfactory responses even Satisfactory responses even w/ low doses of 50mcg/24 w/ low doses of 50mcg/24 hrs, have no effect on hrs, have no effect on primary vitamin B12 primary vitamin B12 deficiencydeficiency

4.4. If pernicious anemia present, If pernicious anemia present, prolonged use of folic acid prolonged use of folic acid should be avoidedshould be avoided

Folic Acid DeficiencyFolic Acid Deficiency

Cobalamine (Vitamin B12) Cobalamine (Vitamin B12) DeficiencyDeficiency

Absorption:Absorption: Vitamin B12 + glycoprotein (intrinsic factor) from Vitamin B12 + glycoprotein (intrinsic factor) from parietal cells of gastric fundus parietal cells of gastric fundus terminal ileum absorption terminal ileum absorption + intrinsic factor + Ca++ + intrinsic factor + Ca++ blood blood

Function: Function: Needed in reactions affecting production of methyl Needed in reactions affecting production of methyl groupsgroups

Etiology:Etiology: Congenital Pernicious AnemiaCongenital Pernicious Anemia: Lack of secretion of intrinsic : Lack of secretion of intrinsic

factor by stomach manifest at factor by stomach manifest at 9 months-10 years9 months-10 years as uterine as uterine stores become exhaustedstores become exhausted

Inadequate intake or dietary deficiency rareInadequate intake or dietary deficiency rare1.1. Strict vegetarian dietStrict vegetarian diet2.2. Not commonly seen in kwashiorkor or marasmusNot commonly seen in kwashiorkor or marasmus3.3. Breast-fed infants whose mothers had deficient diets or Breast-fed infants whose mothers had deficient diets or

pernicious anemiapernicious anemia Consumption or inhibition of the B12-intrinsic factor Consumption or inhibition of the B12-intrinsic factor

complexcomplex Vitamin B12 malabsorption from disease of ileal receptor Vitamin B12 malabsorption from disease of ileal receptor

sites or other intestinal causessites or other intestinal causes

Cobalamine DeficiencyCobalamine DeficiencyClinical Manifestations:Clinical Manifestations:1.1. Megaloblastic anemia that becomes severeMegaloblastic anemia that becomes severe2.2. Neurological includes ataxia, paresthesias, Neurological includes ataxia, paresthesias,

hyporeflexia, Babinski responses, clonus & hyporeflexia, Babinski responses, clonus & comacoma

3.3. Tongue smooth, red & painfulTongue smooth, red & painfulLaboratory Findings:Laboratory Findings:1.1. Anemia macrocyticAnemia macrocytic2.2. Serum vitamin B12 <100pg/ml but serum iron & Serum vitamin B12 <100pg/ml but serum iron &

folic acid normal or elevatedfolic acid normal or elevated3.3. Serum LDH activity markedly increasedSerum LDH activity markedly increased4.4. Urinary excess of methylmalonic acid, a reliable Urinary excess of methylmalonic acid, a reliable

& sensitive index& sensitive index

Cobalamine DeficiencyCobalamine Deficiency5.5. Schilling test to assess the absorption of vitamin B12:Schilling test to assess the absorption of vitamin B12:

a.a. Normal person ingests small amount of radioactive Normal person ingests small amount of radioactive vitamin B12 vitamin B12 none in urine **If flushing dose injected none in urine **If flushing dose injected parenterally, 1000mcg of non-radioactive vitamin B12 parenterally, 1000mcg of non-radioactive vitamin B12 10-30% of previous radioactive vitamin B12 appears in 10-30% of previous radioactive vitamin B12 appears in the urinethe urine

b.b. Pernicious anemia Pernicious anemia 2% or less **If modified: 30 mg 2% or less **If modified: 30 mg intrinsic factor administered along intrinsic factor administered along normal amounts normal amounts

c.c. Disease of ileal receptor sites or other intestinal causes Disease of ileal receptor sites or other intestinal causes no improvement even w/ intrinsic factorno improvement even w/ intrinsic factor

RDA: RDA: Infants 0.5 mcg/dayInfants 0.5 mcg/dayOlder children & adults 3mcg/dayOlder children & adults 3mcg/day

Treatment:Treatment:1.1. Prompt hematological response w/ parenteral vitamin B12 1-Prompt hematological response w/ parenteral vitamin B12 1-

5mcg/24hrs5mcg/24hrs2.2. If there is neurological involvement 1mg IM daily for at least If there is neurological involvement 1mg IM daily for at least

2wks2wks3.3. Pernicious Anemia: Monthly vitamin B12 1mg IM necessary Pernicious Anemia: Monthly vitamin B12 1mg IM necessary

throughout patient’s lifethroughout patient’s life

Cobalamine DeficiencyCobalamine Deficiency

Ascorbic Acid (Vitamin C) Deficiency Ascorbic Acid (Vitamin C) Deficiency ScurvyScurvy

Functions:Functions:1.1. Collagen is the major connective tissue in the body & Collagen is the major connective tissue in the body &

hydroxyproline, found only in collagen, is formed from hydroxyproline, found only in collagen, is formed from proline requiring ascorbic acidproline requiring ascorbic acid

2.2. If there is defective collagen formation, endochondral bone If there is defective collagen formation, endochondral bone formation stops since oste, intercellular substance is no formation stops since oste, intercellular substance is no longer formedlonger formed

3.3. Vitamin C is involved in hydroxylation reactions in the Vitamin C is involved in hydroxylation reactions in the synthesis of steroids and epinephrinesynthesis of steroids and epinephrine

4.4. Ascorbic acid also aids iron absorption by reducing it to Ascorbic acid also aids iron absorption by reducing it to ferrous state in the stomach, spares vitamin A, vitamin E ferrous state in the stomach, spares vitamin A, vitamin E and some B vitamins by protecting them from oxidation, and some B vitamins by protecting them from oxidation, and enhances the utilization of folic acid by aiding the and enhances the utilization of folic acid by aiding the conversion of folate to tetrahydrofolateconversion of folate to tetrahydrofolate

Etiology:Etiology: More common 6-24 monthsMore common 6-24 months May develop in breastfed infant if mother’s diet deficientMay develop in breastfed infant if mother’s diet deficient Improper cooking practices produce significant nutrient Improper cooking practices produce significant nutrient

losses & faulty dietary habitslosses & faulty dietary habits

Ascorbic Acid Deficiency (Scurvy)Ascorbic Acid Deficiency (Scurvy)Clinical Manifestations:Clinical Manifestations:1.1. Early stages are vague symptoms of irritability, digestive Early stages are vague symptoms of irritability, digestive

disturbances & anorexiadisturbances & anorexia2.2. Mild vitamin C deficiency signs include ecchymoses, Mild vitamin C deficiency signs include ecchymoses,

corkscrew hairs and the formation of petechiae due to corkscrew hairs and the formation of petechiae due to increased capillary fragility resulting from weakened increased capillary fragility resulting from weakened collagen fibrilscollagen fibrils

3.3. Severe deficiency results in decreased wound healing, Severe deficiency results in decreased wound healing, osteoporosis, hemorrhaging, bleeding into the skin and osteoporosis, hemorrhaging, bleeding into the skin and friable bleeding gums with loosened teethfriable bleeding gums with loosened teeth

4.4. A presenting feature is an infant w/ painful, immobile A presenting feature is an infant w/ painful, immobile legs (pseudoparalysis), edematous in “frog position” & legs (pseudoparalysis), edematous in “frog position” & occasionally w/ massoccasionally w/ mass

5.5. There is depression of sternum w/ a “rosary of scorbutic There is depression of sternum w/ a “rosary of scorbutic beads at the costochondral junction due to subluxation beads at the costochondral junction due to subluxation of the sternal plateof the sternal plate

6.6. Orbital or subdural hemorrhages, melena & hematuria Orbital or subdural hemorrhages, melena & hematuria may be foundmay be found

7.7. Low grade fever & anemia usually presentLow grade fever & anemia usually present8.8. Impairment of growth & developmentImpairment of growth & development

Ascorbic Acid Deficiency (Scurvy)Ascorbic Acid Deficiency (Scurvy)Diagnosis:Diagnosis:1.1. History of vitamin C-deficient dietHistory of vitamin C-deficient diet2.2. Clinical pictureClinical picture3.3. Therapeutic testTherapeutic test4.4. X-ray findings in the long bones:X-ray findings in the long bones:

a.a. Most prominent & early change is simple knee atrophyMost prominent & early change is simple knee atrophyb.b. Shaft trabeculae cannot be distinguished giving Shaft trabeculae cannot be distinguished giving

“ground glass appearance”“ground glass appearance”c.c. Cortex reduced to “pencil-point thinness”Cortex reduced to “pencil-point thinness”d.d. Zone of well-calcified cartilage, white line of Fraenkel, Zone of well-calcified cartilage, white line of Fraenkel,

seen as irregular & thickened white line w/cseen as irregular & thickened white line w/ce.e. Zone of rarefaction, a linear break in bone proximal & Zone of rarefaction, a linear break in bone proximal &

parallel to white line under at metaphysisparallel to white line under at metaphysisf.f. Calcifying subperiosteal hemorrhages cause bone to Calcifying subperiosteal hemorrhages cause bone to

assume a dumb-bell or club shapeassume a dumb-bell or club shape

Ascorbic Acid Deficiency (Scurvy)Ascorbic Acid Deficiency (Scurvy)

5.5. Laboratory tests not helpful:Laboratory tests not helpful:a.a. Ascorbic acid concentrate of buffy layer of centrifuged Ascorbic acid concentrate of buffy layer of centrifuged

oxalated blood; latent scurvy gives zero level in this oxalated blood; latent scurvy gives zero level in this layerlayer

b.b. Diminished urinary excretion of vitamin C after Diminished urinary excretion of vitamin C after loadingloading

Differential Diagnosis:Differential Diagnosis:1.1. Bleeding, swollen gums: Chronic gingivitis & pyorrhea w/ Bleeding, swollen gums: Chronic gingivitis & pyorrhea w/

pus & respond to good dental hygienepus & respond to good dental hygiene2.2. Pseudoparalysis: Syphilis negative x-ray; Poliomyelitis Pseudoparalysis: Syphilis negative x-ray; Poliomyelitis

absent tenderness of extremitiesabsent tenderness of extremities3.3. Tenderness of limbs: RF age >2 yrs; Suppurative arthritis Tenderness of limbs: RF age >2 yrs; Suppurative arthritis

& osteomyelitis positive blood cultures& osteomyelitis positive blood cultures4.4. Bleeding manifestations: Blood dyscracias positive blood Bleeding manifestations: Blood dyscracias positive blood

examsexams5.5. ““Rosary of scorbutic beads”: RicketsRosary of scorbutic beads”: Rickets

Ascorbic Acid Deficiency (Scurvy)Ascorbic Acid Deficiency (Scurvy)Prognosis:Prognosis: 1.1. Recovery rapid w/ adequate treatment & permanent Recovery rapid w/ adequate treatment & permanent

deformity raredeformity rare2.2. Pain ceases in a few days but swelling caused by Pain ceases in a few days but swelling caused by

subperiosteal hemorrhages may last several monthssubperiosteal hemorrhages may last several monthsPrevention :Prevention :1.1. A minimum daily intake of 30mg is recommended by WHO A minimum daily intake of 30mg is recommended by WHO

for all age levels.for all age levels.2.2. Every infant should receive supplement starting 2nd week of Every infant should receive supplement starting 2nd week of

life.life.3.3. Lactating mothers should have at least 50mg vitamin C daily. Lactating mothers should have at least 50mg vitamin C daily. 4.4. Guava & papaya richer in vitamin C than citrus fruits, also in Guava & papaya richer in vitamin C than citrus fruits, also in

most green leafy vegetables, tomatoes & fresh tubers but most green leafy vegetables, tomatoes & fresh tubers but absent in cereals, most animal products & canned milk.absent in cereals, most animal products & canned milk.

Treatment: Treatment: Ascorbic acid 200-500mg daily or 100-150ml of fruit juice.Ascorbic acid 200-500mg daily or 100-150ml of fruit juice.

Ascorbic Acid Deficiency Ascorbic Acid Deficiency (Scurvy)(Scurvy)

Ascorbic Acid Deficiency Ascorbic Acid Deficiency (Scurvy)(Scurvy)

Be master of your Be master of your habits, habits, Or they will master Or they will master you.you.