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Disease or Condition — Brain and Nerve Disorders:
ASP deficiency

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Description

Canavan disease is a rare, inherited, neurological disorder that affects the brain. It is caused by a mutation in the ASPA gene, which is responsible for producing an enzyme called aspartoacylase. This enzyme is necessary for the normal development of the brain. Without it, the brain is unable to break down certain fatty acids, which leads to the buildup of a substance called N-acetylaspartic acid (NAA). This buildup causes the destruction of the myelin sheath, which is the protective covering of nerve cells. As a result, the affected individual experiences a progressive decline in physical and mental abilities. Symptoms of Canavan disease include poor muscle tone, delayed development, seizures, and vision and hearing loss. There is currently no cure for Canavan disease, but treatments are available to help manage the symptoms.

Synonyms
  • ACY2 deficiency
  • aminoacylase-2 deficiency
  • apartoacylase deficiency
  • ASPA deficiency
  • Canavan's disease
  • Canavan-Van Bogaert-Bertrand disease
  • spongy degeneration of central nervous system
  • spongy degeneration of infancy
Basic Lab Tests (measurements)

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