When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
β Scribed by Ruth Bargal; Marsha Zeigler; Bassam Abu-Libdeh; Vivi Zuri; Hanna Mandel; Ziva Ben Neriah; Fiona Stewart; Nursel Elcioglu; Tareq Hindi; Martine Le Merrer; Gideon Bach; Annick Raas-Rothschild
- Book ID
- 116987841
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 192 KB
- Volume
- 88
- Category
- Article
- ISSN
- 1096-7192
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## Mucolipidosis type II (ML II; I-cell disease) and mucolipidosis III (ML III; pseudo Hurler polydystrophy) are autosomal recessively inherited disorders caused by a defective Nacetylglucosamine 1-phosphotransferase (phosphotransferase). The formation of mannose 6phosphate markers in soluble lysos
## Communicated by Mark H. Paalman Mucolipidosis types II and III are autosomal recessive inherited diseases caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1 phosphotransferase (GlcNAc-phosphotransferase), which adds phosphate to function as a recognition marker for the uptake
Mucolipidosis type III (MLIII) is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. In a study of 10 patients from seven families with a clinical phenotype and enzymatic diagnosis of MLIII, six novel GNPTG gene mutations were identified. These included missense (p.T286M) and