" /> Mucolipidosis III gamma - CISMeF





Preferred Label : Mucolipidosis III gamma;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mucolipidosis III, Complementation group C; Mucolipidosis III, iranian variant form; Ml iiic; Mucolipidosis iiic; Ml III gamma; Mucolipidosis III, variant form;

Description : Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates (summary by Raas-Rothschild et al., 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, gamma subunit gene (GNPTG, 607838.0001);

Laboratory abnormalities : No mucopolysacchariduria; Decreased fibroblast arylsulfatase A; Increased serum beta-hexosaminidase; Increased serum alpha-mannosidase; Increased serum iduronate sulfatase; Increased serum arylsulfatase A.; Decreased fibroblast beta-hexosaminidase; Decreased fibroblast alpha-mannosidase; Decreased fibroblast iduronate sulfatase; Decreased N-acetylglucosamine-1-phosphotransferase (GlcNAc - phosphotransferase) using lysosomal enzymes; Normal-to-slightly decreased GlcNAc phosphotransferase using artificial substrate (e.g., alpha-methylmannoside);

Prefixed ID : #252605;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.