E75.28
BillableCanavan disease
HCC Category Mapping
RxHCCHCC 41 — Lysosomal Storage Disorders
0.000What This Code Means
A rare inherited metabolic disorder where the body cannot properly break down certain lipids, leading to accumulation in the brain and progressive neurological deterioration.
Coding Tips
- •Confirm diagnosis through genetic testing or enzyme assays documented in the medical record
- •Code associated symptoms such as developmental regression, seizures, or vision loss separately
Clinical Significance
Canavan disease (spongy degeneration of the central nervous system) is an autosomal recessive leukodystrophy caused by aspartoacylase deficiency, leading to accumulation of N-acetylaspartic acid and progressive white matter vacuolation. It presents in infancy with macrocephaly, developmental regression, hypotonia progressing to spasticity, and blindness. The disease is most common in Ashkenazi Jewish populations.
Documentation Requirements
- ✓Confirmed diagnosis of Canavan disease or spongy degeneration
- ✓Aspartoacylase enzyme assay showing deficiency or elevated urine N-acetylaspartic acid
- ✓ASPA gene mutation analysis
- ✓Brain MRI showing diffuse white matter changes with spongy degeneration
- ✓Neurological assessment documenting macrocephaly, developmental status, and tone abnormalities
- ✓Ethnic background documentation if relevant to carrier screening
Commonly Confused Codes
E75.25 — Metachromatic leukodystrophy: different enzyme deficiency causing demyelinationE75.23 — Krabbe disease: another leukodystrophy but caused by galactosylceramidase deficiencyE75.27 — Pelizaeus-Merzbacher disease: hypomyelinating vs. Canavan's spongy degenerationQ04.0 — Congenital malformations of corpus callosum: macrocephaly in Canavan should not be confused with structural brain malformationsG93.89 — Other specified disorders of brain: the metabolic cause should be coded as primary