aminoacylase-1 deficiency

Pathology

• atrophy of the vermis & syringomyelia (variable)

Genetics

• associated with defects in ACY1 gene

Clinical manifestations

• clinical significance is uncertain
• non-specific psychomotor delay (variable)
• marked muscular hypotonia (variable)
• individuals may be clinically normal

More general terms

• genetic disease of the central nervous system
• enzyme deficiency