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Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts

MedGen UID:
1050855
Concept ID:
CN375673
Finding
HPO: HP:4000202

Definition

Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) as measured in cultured fibroblasts is below the limits of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts

Conditions with this feature

Alpha-N-acetylgalactosaminidase deficiency type 1
MedGen UID:
373113
Concept ID:
C1836544
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

Recent clinical studies

Etiology

Asfaw B, Ledvinová J, Dobrovolńy R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D
J Lipid Res 2002 Jul;43(7):1096-104. doi: 10.1194/jlr.m100423-jlr200. PMID: 12091494
van Diggelen OP, Schindler D, Willemsen R, Boer M, Kleijer WJ, Huijmans JG, Blom W, Galjaard H
J Inherit Metab Dis 1988;11(4):349-57. doi: 10.1007/BF01800424. PMID: 3149698

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