Succinic Semialdehyde Dehydrogenase Deficiency

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OMIM 57 271980 Disease Ontology 12 DOID:0060175 Orphanet 59 ORPHA22 ICD10 via Orphanet 34 E72.8 UMLS via Orphanet 74 C0268631

MedGen 42 C0268631 MeSH 44 D000592 KEGG 37 H00835 SNOMED-CT via HPO 69 258211005 103252009 25786006 277843001 69322001 408856003 408857007 43614003 248004009 61372001 7011001 48694002 162294008 229721007 29164008 62415009 44548000 228156007 247578003 91138005 85102008 398151007 398152000 224958001 405946002 54200006 230413002 432241000124101 50866000 79631006 192992007 267581004 37356005 230456007 274521009 45352006 248062006 more UMLS 73 C0268631

Genetics Home Reference : ²⁵ Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.

MalaCards based summary : Succinic Semialdehyde Dehydrogenase Deficiency, also known as 4-hydroxybutyric aciduria, is related to aging and epilepsy, and has symptoms including ataxia, seizures and absence seizures. An important gene associated with Succinic Semialdehyde Dehydrogenase Deficiency is ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1), and among its related pathways/superpathways are Alanine, aspartate and glutamate metabolism and Butanoate metabolism. The drugs (3-aminopropyl)(n-butyl)phosphinic acid and GABA Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and globus pallidus, and related phenotypes are behavioral abnormality and intellectual disability

OMIM : ⁵⁷ Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012). (271980)

UniProtKB/Swiss-Prot : ⁷⁵ Succinic semialdehyde dehydrogenase deficiency: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.

NIH Rare Diseases : ⁵³ Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.

Disease Ontology : ¹² A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

Wikipedia : ⁷⁶ Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or... more...

GeneReviews: NBK1195

Clinical features from OMIM:

271980

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