Adenylosuccinase Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
Aliases & Descriptions for Adenylosuccinase Deficiency:
Orphanet epidemiological data:53
adenylosuccinate lyase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
OMIM:51 Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de... (103050) more...
MalaCards based summary: Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to epilepsy and microcephaly, and has symptoms including happy demeanor, wide mouth and thin upper lip vermilion. An important gene associated with Adenylosuccinase Deficiency is ADSL (Adenylosuccinate Lyase). Affiliated tissues include brain, eye and skeletal muscle.
Genetics Home Reference:25 Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.
NIH Rare Diseases:47 Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and movement, autistic features, epilepsy, muscle wasting, and feeding problems. Although less common, abnormal physical features can include severe growth failure, small head, abnormally shaped head, strabismus, small nose with upturned nostrils, thin upper lip, and low set ears. Adenylosuccinase deficiency is caused by mutations in the ADSL gene and is inherited in an autosomal recessive fashion. Last updated: 9/8/2011
UniProtKB/Swiss-Prot:69 Adenylosuccinase deficiency: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA- riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.
Wikipedia:70 Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal... more...
Diseases related to Adenylosuccinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Adenylosuccinase Deficiency:63 (show all 36)
UMLS symptoms related to Adenylosuccinase Deficiency:muscle spasticity, myoclonus, opisthotonus, gait ataxia
MalaCards organs/tissues related to Adenylosuccinase Deficiency:35
Brain, Eye, Skeletal muscle, Testes
Articles related to Adenylosuccinase Deficiency:(show all 23)
Search GEO for disease gene expression data for Adenylosuccinase Deficiency.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet