CANAVAN DISEASE

WHAT IS IT?

• Causes damage to nerve cells in the brain
• Usually pass at a younger age
• Usually occurs within 3-6 months of life
• It is caused by an inherited genetic abnormality
• May have a big head

SOME OTHER NAMES:

• ACY2 deficiency
• Aminoacylase 2 deficiency
• Aspa deficiency
• Aspartoacylase deficiency
• Leukodystrophy, spongiform

MAIN SYMPTOMS

• Big head
• Low muscle tone
• Unable to walk and speak alone
• May sufferer from optic atrophy
• May suffer from blindness

How is it diagnosed?

Lab test can identify the lack of ASA in skin cells or elevated levels of N-acetylaspartic acid (NAA)

Treatment:
As of this time there is no treatment for canavan disease.

SOURCES USED

• Canavanfoundation.org
• Ghr.nlm.nih.gov