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Condition report · Neurological

Canavan Disease

An inherited leukodystrophy caused by changes in the ASPA gene, in which N-acetylaspartic acid builds up in the brain and the white matter becomes spongy. It usually begins in early infancy.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Canavan disease

Autosomal recessive

Deficiency of the enzyme aspartoacylase causes an enlarged head, poor head control, low muscle tone and developmental delay from the first months of life; milder forms also exist.

What a diagnosis changes

Diagnosis allows supportive care, carrier testing for relatives and reproductive planning.

Genes analysed

Also known as

ACY2 deficiency; aminoacylase 2 deficiency; aspartoacylase deficiency; Canavan-VAN Bogaert-Bertrand disease; spongy degeneration of central nervous system; spongy degeneration of the brain; spongy degeneration of the central nervous system; Von Bogaert-Bertrand disease

Includes 2 related subtypes ↓
  • mild Canavan disease
  • severe Canavan disease
MONDO:0010079OMIM 271900Orphanet 141MedGen 61565

Other neurological conditions

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