Canavan disease

Canavan disease is a rare inherited leukodystrophy caused by mutations in ASPA, which impair myelin formation and progressively damage the brain.

ASPA: ASPA is the gene encoding aspartoacylase, an enzyme that breaks down N-acetylaspartic acid. Mutations in this gene cause Canavan disease by reducing aspartoacylase activity.
Macrocephaly: Macrocephaly is an unusually large head circumference, often defined relative to age and sex. Progressive head enlargement is a common feature of classic Canavan disease.
Autosomal recessive inheritance: Autosomal recessive inheritance occurs when a condition develops after a person inherits disease-causing variants in both gene copies. Canavan disease generally requires pathogenic ASPA variants from both parents.
Tay–Sachs disease: Tay–Sachs disease is an inherited lysosomal disorder caused by HEXA deficiency and progressive neuronal injury. Both conditions can cause severe childhood neurodegeneration, but their metabolic defects differ.
Aspartoacylase: Aspartoacylase is an enzyme that hydrolyzes N-acetylaspartic acid into acetate and aspartate. Its deficient activity disrupts N-acetylaspartic acid metabolism in Canavan disease.
Magnetic resonance spectroscopy: Magnetic resonance spectroscopy is an imaging technique that estimates concentrations of specific chemicals in tissue. It can reveal elevated brain N-acetylaspartic acid in Canavan disease.
ASPA variant: An ASPA variant is a DNA sequence difference in the gene encoding aspartoacylase. Different pathogenic variants can reduce or eliminate enzyme activity and cause disease.
Alexander disease: Alexander disease is a rare disorder caused by GFAP variants that damage astrocytes and white matter. It can resemble Canavan disease clinically while arising from a different gene and cell pathology.
N-acetylaspartic acid: N-acetylaspartic acid is a molecule abundant in the brain, produced mainly by neurons and metabolized by oligodendrocytes. Its accumulation is a biochemical hallmark of Canavan disease.
Newborn screening: Newborn screening uses tests shortly after birth to identify conditions that benefit from early evaluation or treatment. Canavan disease can be detected through programs screening for elevated N-acetylaspartic acid.

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Leigh syndromeCompared with: It can cause early progressive neurological decline but has a different metabolic cause and imaging pattern.