Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients survive to adulthood. MLIII is caused by the deficiency of GlcNac-1-phosphotransferase, that exists as a heterohexamer comprising three subunits, alpha, beta, and gamma. It is encoded by two distinct genes, GNPTAB and GNPTG.
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B
タイトル
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T
タイトル
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
