U.S. flag

An official website of the United States government


Send to:

Choose Destination

Reduced aspartoacylase activity in cultured fibroblasts

MedGen UID:
Concept ID:
HPO: HP:6000354


Acitivity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC, also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced aspartoacylase activity in cultured fibroblasts

Conditions with this feature

Spongy degeneration of central nervous system
MedGen UID:
Concept ID:
Disease or Syndrome
Most individuals with Canavan disease have the neonatal/infantile form. Although such infants appear normal early in life, by age three to five months, hypotonia, head lag, macrocephaly, and developmental delays become apparent. With age, children with neonatal/infantile-onset Canavan disease often become irritable and experience sleep disturbance, seizures, and feeding difficulties. Swallowing deteriorates, and some children require nasogastric feeding or permanent feeding gastrostomies. Joint stiffness increases, so that these children resemble individuals with cerebral palsy. Children with mild/juvenile Canavan disease may have normal or mildly delayed speech or motor development early in life without regression. In spite of developmental delay most of these children can be educated in typical classroom settings and may benefit from speech therapy or tutoring as needed. Most children with mild forms of Canavan disease have normal head size, although macrocephaly, retinitis pigmentosa, and seizures have been reported in a few individuals.

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...