Preferred Label : 4-hydroxybutyric aciduria;
ICD-11 definition : The 4-hydroxybutyricaciduria deficiency is a metabolic disorder with a neurological
presentation ranging from mild to severe. It is a rare disease with around 350 cases
reported. The most frequent symptoms are psychomotor retardation, delayed speech development,
hypotonia and ataxia. Transmission is autosomal recessive and mutations in the SSADH
(Succinic Semialdehyde Dehydrogenase NAD( )-Dependant) gene, located on chromosome
6p22, have been reported. The key biochemical feature is an accumulation of gamma-hydroxybutyrate
in urine, plasma and cerebro-spinal fluid. There is no efficient treatment available.;
ICD-11 synonym : Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric acidaemia;
Origin ID : 2031643850;
UMLS CUI : C0268631;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
The 4-hydroxybutyricaciduria deficiency is a metabolic disorder with a neurological
presentation ranging from mild to severe. It is a rare disease with around 350 cases
reported. The most frequent symptoms are psychomotor retardation, delayed speech development,
hypotonia and ataxia. Transmission is autosomal recessive and mutations in the SSADH
(Succinic Semialdehyde Dehydrogenase NAD( )-Dependant) gene, located on chromosome
6p22, have been reported. The key biochemical feature is an accumulation of gamma-hydroxybutyrate
in urine, plasma and cerebro-spinal fluid. There is no efficient treatment available.
