KEGG DISEASE: Canavan disease

DISEASE: Canavan disease

Entry

H00074                      Disease

Name

Canavan disease

Description

Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization with progressive leukodystrophy. The disease is caused by aspartoacylase deficiency resulting in accumulation of N-acetylaspartic acid (NAA) in the brain. The increased levels of NAA in CD lead to swelling or sponginess of the brain. Two mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are different and more diverse.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00074  Canavan disease

Pathway

hsa00250

Alanine, aspartate and glutamate metabolism

Gene

ASPA [HSA:443] [KO:K01437]

Comment

Disease class: leukodystrophy
Affected region: cerebral white matter
Microscopic lesion: accumulation of a chemical called N-acetyl-aspartic acid (NAA) and degeneration of myelin

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:19319678

Authors

Baslow MH, Guilfoyle DN

Title

Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?

Journal

Neurochem Res 34:1523-34 (2009)
DOI:10.1007/s11064-009-9958-z

Reference

PMID:17391648

Authors

Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA

Title

Mutational analysis of aspartoacylase: implications for Canavan disease.

Journal

Brain Res 1148:1-14 (2007)
DOI:10.1016/j.brainres.2007.02.069

Reference

PMID:16807907

Authors

Kumar S, Mattan NS, de Vellis J.

Title

Canavan disease: a white matter disorder.

Journal

Ment Retard Dev Disabil Res Rev 12:157-65 (2006)
DOI:10.1002/mrdd.20108

Reference

PMID:16647192

Authors

Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN

Title

Canavan disease and the role of N-acetylaspartate in myelin synthesis.

Journal

Mol Cell Endocrinol 252:216-23 (2006)
DOI:10.1016/j.mce.2006.03.016

Reference

PMID:14567959

Authors

Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R

Title

Canavan disease: a monogenic trait with complex genomic interaction.

Journal

Mol Genet Metab 80:74-80 (2003)
DOI:10.1016/j.ymgme.2003.08.015

Reference

PMID:12638939

Authors

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH

Title

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Journal

J Inherit Metab Dis 25:557-70 (2002)
DOI:10.1023/A:1022091223498

Reference

PMID:8252036

Authors

Kaul R, Gao GP, Balamurugan K, Matalon R

Title

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

Journal

Nat Genet 5:118-23 (1993)
DOI:10.1038/ng1093-118

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (7)   
   PubMed (7)   
All databases (10)   

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