I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

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• 作者：Ankur Singh ; Rajniti Prasad ; Aditya Kumar Gupta…
• 关键词：Mucolipidosis type II alpha/beta (ML II alpha/beta) ; p ; nitrocatechol sulphate (p ; NCS) ; Molecular characterization ; GNPTAB
• 刊名：The Indian Journal of Pediatrics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：84
• 期：2
• 页码：144-146
• 全文大小：
• 刊物主题：Pediatrics; Gynecology;
• 出版者：Springer India
• ISSN：0973-7693
• 卷排序：84

文摘

Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case.