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Adenylosuccinate lyase deficiency MeSH Supplementary Concept Data 2023


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
Registry Number
0
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
Adenylosuccinate lyase deficiency Preferred
Adenylosuccinate lyase deficiency type 4 Narrower
Adenylosuccinate lyase deficiency type 3 Narrower
Adenylosuccinate lyase deficiency type 2 Narrower
Adenylosuccinate lyase deficiency type 1 Narrower
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