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International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease

  • ICIEM 2006
  • Published:
Journal of Inherited Metabolic Disease

Summary

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.

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Abbreviations

C6S:

chondroitin 6-sulfate

DS:

dermatan sulfate

ERT:

enzyme replacement therapy

GAG:

glycosaminoglycans

GalNAc:

N-acetylgalactosamine

GALNS:

GalNAc 6-sulfate sulfatase

HS:

heparan sulfate

IMO:

International Morquio Organization

KS:

keratan sulfate

MPS IVA:

mucopolysaccharidosis IVA (Morquio A disease)

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, Missouri, USA

    A. M. Montaño, S. Tomatsu & G. S. Gottesman

  2. International Morquio Organization, Phoenix, Arizona, USA

    M. Smith

  3. Department of Pediatrics, Gifu University, Gifu, Japan

    T. Orii

Authors
  1. A. M. Montaño
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  2. S. Tomatsu
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  3. G. S. Gottesman
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  4. M. Smith
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  5. T. Orii
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Corresponding author

Correspondence to S. Tomatsu.

Additional information

Communicating editor: Verena Peters

Competing interests: None declared

References to electronic databases: MPS IVA, OMIM #253000

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Montaño, A.M., Tomatsu, S., Gottesman, G.S. et al. International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 30, 165–174 (2007). https://doi.org/10.1007/s10545-007-0529-7

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  • DOI: https://doi.org/10.1007/s10545-007-0529-7

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