Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q2823333> ?p ?o }
- Q2823333 subject Q18698582.
- Q2823333 subject Q6853484.
- Q2823333 subject Q6902466.
- Q2823333 subject Q7215445.
- Q2823333 abstract "Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a patient that suffered from a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well.SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then be utilized for energy production via the Krebs cycle. However, because of the deficiency, the final intermediate of the GABA degradation pathway, succinic semialdehyde, accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma-hydroxybutyric dehydrogenase. This causes elevations in GHB and is believed to be the trademark of this disorder and cause for the neurological manifestations seen.".
- Q2823333 omim "271980".
- Q2823333 thumbnail 4-Hydroxybutansäure_-_4-Hydroxybutanoic_acid.svg?width=300.
- Q2823333 wikiPageExternalLink br.fcgi?book=gene&part=ssadh.
- Q2823333 wikiPageExternalLink PND_2002.htm.
- Q2823333 wikiPageExternalLink www.pndassoc.org.
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