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ORIGINAL ARTICLE
Korean J Pediatr 2012 November;55(11) :430-437.
Published online 2012 September 15.        doi:https://doi.org/10.3345/kjp.2012.55.11.430
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
Na Hee Lee (Lee NH)1, Sung Yoon Cho (Cho SY)1, Se Hyun Maeng (Maeng SH)1, Tae Yeon Jeon (Jeon TY)2, Young Bae Sohn (Sohn YB)3, Su Jin Kim (Kim SJ)4, Hyung-Doo Park (Park HD)5, Dong Kyu Jin (Jin DK)1
1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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
4Department of Center of Pediatric Oncology, National Cancer Center, Goyang, Korea
5Department of Laboratory Medicine & Genetics Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea
Corresponding Author: Dong Kyu Jin ,Tel: 02-3410-3525, Fax: 02-3410-0043, Email: jindk@skku.edu
Copyright © 2012 by The Korean Pediatric Society
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. Method: 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. Result: 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.
Keywords: Mucopolysaccharidosis IVA | GALNS | Atlantoaxial subluxation | Morquio A syndrome
 
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