Aspartoacylase deficiency

Synonym(s)
- Canavan disease,
- aminoacylase 2 deficiency
Type

Disease
External link(s)
Gene
- ASPA / Aspartoacylase
  17p13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aspartoacylase
Pathway
- Glutamate/glutamine and aspartate/asparagine metabolism
Disease group(s)
- 1.9 Disorders of glutamate/glutamine and aspartate/asparagine metabolism
Child entries
- Aspartoacylase deficiency, severe form
- Aspartoacylase deficiency, attenuated form