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Alpha-N-acetylgalactosaminidase deficiency

MedGen UID:
959933
•Concept ID:
CN276905
•
Disease or Syndrome
Synonyms: alpha-N-acetylgalactosaminidase activity disease; alpha-N-acetylgalactosaminidase deficiency; disorder of alpha-N-acetylgalactosaminidase activity; NAGA deficiency; Schindler disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017779
Orphanet: ORPHA3137

Definition

A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha-N-acetylgalactosaminidase deficiency

Recent clinical studies

Etiology

Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder.
Yilmaz S, Öner P
World J Biol Psychiatry 2023 Feb;24(2):187-194. Epub 2022 Sep 27 doi: 10.1080/15622975.2022.2124451. PMID: 36102137
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A
Biochim Biophys Acta 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. PMID: 10571005
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R
J Pediatr 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. PMID: 8071745
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.
Desnick RJ, Wang AM
J Inherit Metab Dis 1990;13(4):549-59. doi: 10.1007/BF01799512. PMID: 2122121
Disorders of glycoprotein degradation.
Cantz M, Ulrich-Bott B
J Inherit Metab Dis 1990;13(4):523-37. doi: 10.1007/BF01799510. PMID: 2122119

Diagnosis

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG
J Inherit Metab Dis 2023 Mar;46(2):206-219. Epub 2023 Feb 28 doi: 10.1002/jimd.12597. PMID: 36752951
A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.
Chabás A, Duque J, Gort L
J Inherit Metab Dis 2007 Feb;30(1):108. Epub 2006 Dec 14 doi: 10.1007/s10545-006-0470-1. PMID: 17171432
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R
J Pediatr 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. PMID: 8071745
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.
Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E
J Inherit Metab Dis 1994;17(6):724-31. doi: 10.1007/BF00712015. PMID: 7707696
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.
Desnick RJ, Wang AM
J Inherit Metab Dis 1990;13(4):549-59. doi: 10.1007/BF01799512. PMID: 2122121

Prognosis

Neurologic manifestations of Kanzaki disease.
Umehara F, Matsumuro K, Kurono Y, Arimura K, Osame M, Kanzaki T
Neurology 2004 May 11;62(9):1604-6. doi: 10.1212/01.wnl.0000123116.96441.34. PMID: 15136691
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A
Biochim Biophys Acta 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. PMID: 10571005
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R
J Pediatr 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. PMID: 8071745

Clinical prediction guides

Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder.
Yilmaz S, Öner P
World J Biol Psychiatry 2023 Feb;24(2):187-194. Epub 2022 Sep 27 doi: 10.1080/15622975.2022.2124451. PMID: 36102137
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A
Biochim Biophys Acta 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. PMID: 10571005
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency.
Wolfe DE, Schindler D, Desnick RJ
J Neurol Sci 1995 Sep;132(1):44-56. doi: 10.1016/0022-510x(95)00124-k. PMID: 8523030
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.
Kanzaki T, Wang AM, Desnick RJ
J Clin Invest 1991 Aug;88(2):707-11. doi: 10.1172/JCI115357. PMID: 1907616Free PMC Article
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.
Desnick RJ, Wang AM
J Inherit Metab Dis 1990;13(4):549-59. doi: 10.1007/BF01799512. PMID: 2122121

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