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An infant with macrocephaly and hypotonia develops progressive spasticity, visual impairment, and seizures. MRI shows diffuse white matter involvement. N-acetylaspartic acid is elevated in urine.
AR; ASPA (aspartoacylase)
- Common in Ashkenazi Jewish population
- Leukodystrophy (spongiform white matter degeneration)
- Macrocephaly (progressive)
- Hypotonia → spasticity
- Severe developmental regression
- Visual impairment, optic atrophy
- Elevated N-acetylaspartic acid (NAA) in urine, blood, CSF
- MRI: diffuse white matter changes, subcortical U-fiber involvement
Carrier Screening: Included in Ashkenazi Jewish panel
- Not on RUSP; suspected clinically (macrocephaly, leukodystrophy on MRI)
- Markedly elevated N-acetylaspartic acid (NAA) on urine organic acids; elevated NAA peak on MR spectroscopy
- Confirmation: deficient aspartoacylase activity or biallelic ASPA variants
- Supportive only: no disease-modifying therapy
- Seizure control, feeding/nutrition support, management of spasticity, physical therapy
- ASPA gene therapy under investigation
CaNAAvan has elevated NAA: Canavan disease is diagnosed by elevated N-acetylaspartic acid (NAA) on urine organic acids and MR spectroscopy.