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Diagnosis of mucopolysaccharidosis type IIIB.

Authors
Type
Published Article
Journal
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
Publication Date
Volume
37
Issue
5
Pages
320–323
Identifiers
PMID: 8942024
Source
Medline

Abstract

Mucopolysaccharidosis (MPS) includes a group of lysosomal storage diseases. Among them, type III (Sanfilippo) disease is rarely described in Taiwan because of their complexity. With accurate quantifying and precise separation of urinary glycosaminoglycans (GAGs), and specific enzyme measurements, two cases of MPS IIIB disease were able to be described. They both had mild-to-moderate degrees of mental retardation, facial dysmorphism and dysostosis multiplex which do not differ from other types of MPS. Total amounts of GAGs in the urine were only mildly elevated but, among them, heparan sulfate was the highest. Skin fibroblasts alpha-N-acetyl-glucosaminidase activities were low in both cases. Therefore, analysis of GAGs and enzyme assays are important for the diagnosis of patients suspected to have MPS, especially type III disease.

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