U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Alpha-N-acetylgalactosaminidase deficiency

MedGen UID:
1845666
Concept ID:
C5848084
Disease or Syndrome
Synonyms: alpha-N-acetylgalactosaminidase activity disease; alpha-N-acetylgalactosaminidase deficiency; disorder of alpha-N-acetylgalactosaminidase activity; NAGA (alpha-N-acetylgalactosaminidase) deficiency; NAGA deficiency; Schindler disease
SNOMED CT: Schindler disease (238048001); Alpha-N-acetylgalactosaminidase deficiency (238048001); NAGA (alpha-N-acetylgalactosaminidase) deficiency (238048001)
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).
 
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

Professional guidelines

PubMed

Chamoles NA, Blanco M, Gaggioli D, Casentini C
Clin Chim Acta 2002 Mar;317(1-2):191-7. doi: 10.1016/s0009-8981(01)00798-7. PMID: 11814475

Recent clinical studies

Etiology

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
Kimura A, Kanekura T, Saito Y, Sagawa K, Nosaka M, Kanzaki T, Tsuji T
Life Sci 2005 Mar 4;76(16):1817-24. Epub 2005 Jan 21 doi: 10.1016/j.lfs.2004.09.027. PMID: 15698859
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
Desnick RJ, Wang AM
J Inherit Metab Dis 1990;13(4):549-59. doi: 10.1007/BF01799512. PMID: 2122121
Cantz M, Ulrich-Bott B
J Inherit Metab Dis 1990;13(4):523-37. doi: 10.1007/BF01799510. PMID: 2122119

Diagnosis

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
Kimura A, Kanekura T, Saito Y, Sagawa K, Nosaka M, Kanzaki T, Tsuji T
Life Sci 2005 Mar 4;76(16):1817-24. Epub 2005 Jan 21 doi: 10.1016/j.lfs.2004.09.027. PMID: 15698859
Prence EM, Gleason J, Natowicz MR
Clin Chim Acta 1996 Mar 29;247(1-2):167-73. doi: 10.1016/0009-8981(95)06240-8. PMID: 8920235
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
Desnick RJ, Wang AM
J Inherit Metab Dis 1990;13(4):549-59. doi: 10.1007/BF01799512. PMID: 2122121

Prognosis

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
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
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

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
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
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
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
Desnick RJ, Wang AM
J Inherit Metab Dis 1990;13(4):549-59. doi: 10.1007/BF01799512. PMID: 2122121

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...