Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
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- 作者：Mina Yang ; Sung Yun Cho ; Hyung-Doo Park ; Rihwa Choi…
- 关键词：GNPTAB ; Lysosomal storage disease ; Mucolipidosis ; Prenatal diagnosis
- 刊名：Orphanet Journal of Rare Diseases
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：12
- 期：1
- 全文大小：1118KB
- 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Human Genetics;
- 出版者：BioMed Central
- ISSN：1750-1172
- 卷排序：12
文摘
BackgroundMucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review.