📋Overview
This condition is classified as a leukodystrophy, a group of disorders that impair the growth or maintenance of the myelin sheath, which acts as a protective covering for nerve fibers. It is caused by mutations in the ASPA gene, leading to a deficiency of the enzyme aspartoacylase and a subsequent accumulation of N-acetylaspartic acid in brain tissue.
The resulting chemical imbalance leads to spongy degeneration of the brain's white matter, which disrupts the transmission of nerve impulses. This process typically begins in infancy and results in a progressive decline of neurological function as the brain tissue undergoes structural changes.
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Additional Resources
Medical codes (for reference)
UMLS CUI: C0206307Codes are provided for reference and interoperability. They are not a diagnosis.
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