A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance.
Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes.
Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The office is open 9.00am - 5.00pm Mondays to Fridays. A national umbrella organisation working on behalf of children, young people and families affected by metabolic disease.