Growth Chart Morquio

2008 Wiley-Liss, Inc. American Journal of Medi cal Genetics Part A 146A:1286–1 295 (2008) Growth Charts for Patients Affected With Morquio A Disease Adriana M. Montan õ, 1 Shunji Tomatsu, 1 * Ana Brusius, 1 Mary Smith, 2 and Tadao Orii 3 1 Department of Pediatrics, Saint Louis University, St. Louis, Missouri 2 International Morquio Organization, Phoenix, Arizona 3 Department of Pediatrics, Gifu University, Gifu, Japan Received 10 September 2007; Accepted 15 December 2007 Children with Morquio A disease grow poorly and become physically handicapped because of systemic bone disease. The purpose of this study was to describe observed growth patterns and their relationship with the physical condition of patients with Morquio A. In a one-center study, question- naire-based longitudinal and cross sectional data were used to develop growth curves, to assess physical activity and to det ermi ne the inc ide nce of surgical procedu res in 354 patients with Morquio A. Mean birth lengths of boys and girls were 52.6 and 52.1 cm, respectively. The mean final heights for males and females at 18 years and older were 122.4 21.5 and 113.1 22.6 cm, respectively. These results corresponded to 7.4 SD for males and 7.7 SD for females compared to the normal healthy controls. Mean birth weights for boys and gi rl s we re 3. 59 0.58 and 3.5 0.7 kg , resp ecti vely. The mean body mass index for males and fe ma les at over 18 ye a rs of age wa s 24.7 6.1 and 25.6 5. 4 kg/m 2 , respecti vely. The gr owt h patt er n in Morquio A patients was characterized by impaired growth velocity after 1 year of age. This is the first report providing growth charts for patients with Morquio A, which can help with monitoring the disease and assessing the clinical efficacy of treatments. 2008 Wiley-Liss, Inc. Key words: Morqui o A disea se; growth; MPS IVA; GALNS How to cite this article: Montan õ AM, Tomatsu S, Brusius A, Smith M, Orii T. 2008. Growth charts for patients affected with Morquio A disease. Am J Med Genet Part A 146A:1286–1295. INTRODUCTION Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease: OMIM#253000 ) is a lysoso mal sto rag e disease in whic h af fect ed indi vi dual s lack the enzyme, N -acetylgalactos amine-6-sulfate sulfatase (GALNS, EC: 3.1.6.4). This enzyme hydrolyzes the sulfate moiety of the glycosaminoglycans (GAGs) namely , ker ata n sul fat e (KS ) and cho ndr oitin- 6- sulfate (C6 S).In abs enc e of thisenz yme , thestepw ise deg radation of KS and C6S is blo cke d, res ult ing in the intracellular accumulation of the respective GAG in the lysosomes of a wide range of tissues [Singh et al., 1976]. Prevalence of Morquio A disease is approximately 1 in 250,000 live births, but the incidence varies widely among countries [Lowry et al., 1990; Meikle et al., 1999; Poorthuis et al., 1999; Applegarth et al., 2000; Baehner et al., 2005]. There are several studies that have documented the incidence of Morquio A; the highest is 1 in 76,000 live births in Northern Ireland [Nelson, 1997], and the lowest is 1 in 450,000 live birthsin Por tug al [Pintoet al., 200 4]. The con cep t of a founder effect accounts for the discrepancy of the incidence in different ethnic populations. More than 150 different mutations in the GALNS gene have been identified so far. Over 70% of the known le si ons in th e GALNS gen e der ive from missense mut ati ons [Tomatsu et al. , 200 6]. Thi s heterogeneity in GALNS gene mutations accounts for extensive clinical variability of Morquio A [Orii et al., 1981; Fukuda et al., 1992; Hori et al., 1995; Ogawa et al., 1995; Kato et al., 1997; Yamada et al., 1998; Terzioglu et al., 2002; Montan õ et al., 2003, 2007a; Tomatsu et al., 2005]. Affected infants seem normal at birth but will progress to an advanced stage of the disease within a few years . Over 70% of pat ients aff ect ed wit h Morquio A have initial clinical manifestations within the first 2–3 ye ar s of li fe al th ou gh the formal diagnosis is usually delayed until about 2 years later [Montan ˜ o et al., 2007b]. Children with Morquio A Grant sponsor: International Morquio Organization. *Cor resp ondence to: Shunji Tomatsu, M.D., Ph.D. , Depar tment of Pediatrics, Saint Louis University, Doisy Research Center Room 307, 1100 South Grand Blvd., St. Louis, MO 63104. E-mail: [email protected] DOI 10.1002/ajmg.a.32281

Growth Chart Morquio

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