Canavan disease

A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous

A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.

Signs and symptoms

• Reduced aspartoacylase activity in cultured fibroblasts
• Elevated brain N-acetyl aspartate level by MRS
• Global developmental delay
• Abnormal pyramidal sign
• Visual impairment
• Elevated urine N-acetylaspartic acid level
• Macrocephaly
• Delayed closure of the anterior fontanelle
• Hearing impairment
• Hypotonia

Also known as: ACY2 DEFICIENCY; AMINOACYLASE 2 DEFICIENCY; ASP DEFICIENCY; ASPA DEFICIENCY; ASPARTOACYLASE DEFICIENCY