Korean J Pediatr.
2012 Nov;55(11):430-437. 10.3345/kjp.2012.55.11.430.
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
- Affiliations
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- 1Department of Pediatrics, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea. jindk@skku.edu
- 2Department of Radiology & Center for Imaging Science, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea.
- 3Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.
- 4Center of Pediatric Oncology, National Cancer Center, Goyang, Korea.
- 5Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea.
- KMID: 1781705
- DOI: http://doi.org/10.3345/kjp.2012.55.11.430
Abstract
- PURPOSE
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life.
METHODS
MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results.
RESULTS
Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively.
CONCLUSION
An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.
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