Canavan disease

What is Canavan disease?

Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.

Other condition names

  • ACY2 deficiency
  • Aminoacylase 2 deficiency
  • Aspartoacylase deficiency
  • Spongy degeneration of the brain

Inheritance type

Autosomal recessive

Age of Onset

  • Childhood
  • Infancy
  • Neonatal
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