International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
Top Cited Papers
- 8 March 2007
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 30 (2), 165-174
- https://doi.org/10.1007/s10545-007-0529-7
Abstract
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The natural history of this disease is incompletely understood. To study which variables influence the clinical outcome, we conducted a study in which MPS IVA patients were asked to fill out a questionnaire with inquiries regarding family history, diagnosis, signs and symptoms, height, weight, surgical history, physical activity, and general complaints. A total of 326 patients (172 male, 154 female) from 42 countries enrolled in the Morquio A Registry programme. The mean age of patients enrolled was 14.9 years for males and 19.1 years for females, with a wide range of 1–73 years. Sixty-four per cent of the patients were under 18 years. Initial symptoms were recognized between 1 and 3 years of age (mean age 2.1 years) and mean age at diagnosis for the patients was 4.7 years. A progressive skeletal dysplasia was commonly observed among the MPS IVA patients. Fifty per cent of patients underwent surgical operations to improve their quality of life. The most frequent surgical sites include neck (51%), ear (33%), leg (26%) and hip (25%). The birth length for affected males and females was 52.2 ± 4.7 cm and 52.2 ± 4.5 cm, respectively. The final adult height for affected males and females was 122.5 ± 22.5 cm and 116.5 ± 20.5 cm, respectively. The results of this study provide a reference for assessment of efficacy for studies of novel therapies.This publication has 24 references indexed in Scilit:
- Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)Human Mutation, 2005
- Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfataseHuman Molecular Genetics, 2005
- Prevalence of lysosomal storage diseases in PortugalEuropean Journal of Human Genetics, 2003
- Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) geneHuman Mutation, 2002
- Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypesHuman Molecular Genetics, 2000
- Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996PEDIATRICS, 2000
- Mucopolysaccharidosis type IVA (morquio syndrome): A clinical reviewJournal of Inherited Metabolic Disease, 1995
- Mucopolysaccharidosis IV A: Molecular Cloning of the Human N-Acetylgalactosamine-6-sulfatase Gene (GALNS) and Analysis of the 5′-Flanking RegionGenomics, 1994
- Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.JCI Insight, 1992
- Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfataseBiochemical and Biophysical Research Communications, 1991