MeSH Browser

MeSH Supplementary: Adenylosuccinate lyase deficiency
Unique ID: C538235
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538235
Entry Term(s): ADSL Deficiency; Adenylosuccinase deficiency; Adenylosuccinate lyase deficiency type 1; Adenylosuccinate lyase deficiency type 2; Adenylosuccinate lyase deficiency type 3; Adenylosuccinate lyase deficiency type 4; Succinylpurinemic autism
Heading Mapped to: Adenylosuccinate Lyase / deficiency; *Autistic Disorder; *Purine-Pyrimidine Metabolism, Inborn Errors
Frequency: 29
Note: 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 of Entry: 2010/06/25
Revision Date: 2019/05/01

Concept UI: M0532696
Terms: Adenylosuccinate lyase deficiency Preferred Term
Term UI T745147
Date02/24/2009
LexicalTag NON
ThesaurusID; Adenylosuccinase deficiency
Term UI T745149
Date02/24/2009
LexicalTag NON
ThesaurusID; Succinylpurinemic autism
Term UI T745150
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); ADSL Deficiency
Term UI T824918
Date06/26/2012
LexicalTag NON
ThesaurusID OMIM (2013)

Adenylosuccinate lyase deficiency MeSH Supplementary Concept Data 2024