About The Medical Condition Aspartoacylase Deficiency Disease

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Find the definition of the medical term Aspartoacylase Deficiency Disease. Aspartoacylase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Aspartoacylase Deficiency Disease

Aspartoacylase Deficiency Disease Medical Condition Defined & Explained
Aspartoacylase Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition Aspartoacylase Deficiency Disease?

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 infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)

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