KEGG   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 disease; Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00074  Canavan disease
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00074  Canavan disease
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
Related
pathway
hsa00250  Alanine, aspartate and glutamate metabolism
Gene
ASPA; aspartoacylase [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: 5C50.E1
ICD-10: E75.2
MeSH: D017825
OMIM: 271900
Reference
  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
  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
  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
  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
  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
  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

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