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Canavan Disease - Medical Condition Information

Canavan Disease

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📋Overview

Canavan disease is a rare inherited neurodegenerative disorder classified as a leukodystrophy. It is caused by mutations in the ASPA gene leading to deficiency of the enzyme aspartoacylase. This results in accumulation of N-acetylaspartic acid (NAA) in the brain, causing spongy degeneration of the white matter. It primarily affects infants and young children and leads to progressive neurological decline.

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Medical codes (for reference)

UMLS CUI: C0206307
ICD-10-CM
E75.28
MeSH
D017825
SNOMED CT (US)
80544005

Codes are provided for reference and interoperability. They are not a diagnosis.

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