Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

Özet

Aim: Mucopolysaccharidosis Type IVA (MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemicinvolvements include skeletal systems, pulmonary disease, valvular heart disease, hearing loss, mild hepatomegaly, corneal clouding, coarse facial features.Materials and Methods: We retrospectively analyzed clinical and laboratory and follow up findings of our 25 patients with ministry for primary industries independentverification agency.Results: Mean age of the patients was 14.9±7.05 (5.5-36 years). Mean age at diagnosis was 7.3±6.2 years (6 months-31 years). Female: male ratio was 13/12. All patientshad skeletal manifestation and X-ray analysis demonstrated “dysostosis multiplex”. Twelve patients (48%) had cardiac valve disease. Twenty three (92%) patients hadcorneal clouding, 15 (60%) patients had hearing loss and 9 (36%) had hepatomegaly. Six (24%) patients were unable to walk. Mean follow up period is 7.4 years ±3.5 years (3months-17 years). Four patients have not visit our clinical for last ≥3 years. Three patients died during follow up.Conclusion: MPS IVA is a severe disorder and is usually fatal in the second or third decade of life due to the complications of the disease. Early diagnosis of the patientbecame more important, because specific therapy with elasulphase alpha was approved recent years ago.