Adenylosuccinate lyase deficiency [Supplementary Concept]
A rare hereditary autosomal recessive neurological disorder that is caused by a deficiency of the adenylosuccinate lyase enzyme. The neonatal form is most severe and affected individuals exhibit impaired growth in utero, inability to move, MICROCEPHALY; RESPIRATORY INSUFFICIENCY; SEIZURES and death within a few weeks after birth. Individuals with type 1 deficiency exhibit severe psychomotor delay, HYPOTONIA, microcephaly, seizures, and autistic behavior within the first months of life. Type II insufficiency is less severe and affected individuals exhibit a mild psychomotor delay, and in some cases seizures and autistic behavior beginning after the first few years of life. Mutations in the ADSL gene have been identified. OMIM: 103050
Date introduced: June 25, 2010
MeSH Unique ID: C538235
Heading Mapped to:
Entry Terms:
- Adenylosuccinase deficiency
- Succinylpurinemic autism
- ADSL Deficiency
- Adenylosuccinate lyase deficiency type 1
- Adenylosuccinate lyase deficiency type 2
- Adenylosuccinate lyase deficiency type 3
- Adenylosuccinate lyase deficiency type 4