• Succinic semialdehyde dehydrogenase deficiency ( SSADHD ), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikipedia.org)
  • Succinic semialdehyde dehydrogenase deficiency has an autosomal recessive pattern of inheritance. (wikipedia.org)
  • We describe the rapid and sensitive detection of 4-hydroxybutyric acid, which is a marker compound for succinic semialdehyde dehydrogenase (SSADH) deficiency. (nih.gov)
  • We report a boy with 4-hydroxybutyric aciduria resulting from a deficiency of succinic semialdehyde dehydrogenase (SSADH). (nih.gov)
  • A neonate at risk for succinic semialdehyde dehydrogenase deficiency was investigated on day 1. (nih.gov)
  • Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare disorder characterized by an inborn error of the catabolism of the inhibitory neurotransmitter GABA. (nih.gov)
  • This study will measure brain excitability in patients with succinic semialdehyde dehydrogenase (SSADH) deficiency, and in their parents. (clinicaltrials.gov)
  • The succinic semialdehyde can be converted into either succinic acid by SSADH or to GHB by the enzyme succinic semialdehyde reductase. (wikipedia.org)
  • Catalyzes the NADP(+) dependent oxidation of succinate semialdehyde to succinate. (mybiosource.com)
  • 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. (wikipedia.org)
  • GABA is metabolized by successive transamination and oxidation to yield succinic semialdehyde and succinic acid respectively via the catalyzing effects of GABA transaminase. (wikipedia.org)
  • The malonate semialdehyde can then be converted into malonate via malonate-semialdehyde dehydrogenase. (hmdb.ca)
  • 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. (medlineplus.gov)
  • The eutE gene encodes the second enzyme in the pathway, acetaldehyde dehydrogenase, which forms acetyl-coenzyme A (CoA) ( 45 ). (asm.org)
  • The genes for NAD-dependent ethanol dehydrogenase and NAD(P)-dependent acetaldehyde dehydrogenase are located next to genes for microcompartment proteins, suggesting that the two enzymes, which are isolated together in a macromolecular complex, form a carboxysome-like structure. (pnas.org)
  • In bacteria, the enzyme is also involved in γ-aminobutyric acid degradation, but can be recruited to facilitate other functions, such as converting succinate-semialdehyde formed during fission of the pyridine ring to succinic acid for entry into the Krebs Cycle. (wikipedia.org)
  • In living organisms, succinic acid takes the form of an anion , succinate, which has multiple biological roles as a metabolic intermediate being converted into fumarate by the enzyme succinate dehydrogenase in complex 2 of the electron transport chain which is involved in making ATP, and as a signaling molecule reflecting the cellular metabolic state. (wikipedia.org)
  • A lack of functional succinic semialdehyde dehydrogenase disrupts the conversion of succinic semialdehyde to succinic acid. (nih.gov)
  • This gene encodes a mitochondrial NAD + -dependent succinic semialdehyde dehydrogenase . (wikidoc.org)
  • GO annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity . (genecards.org)
  • We propose below that the eutG gene encodes an alcohol dehydrogenase. (asm.org)
  • Succinate can exit the mitochondrial matrix and function in the cytoplasm as well as the extracellular space, changing gene expression patterns, modulating epigenetic landscape or demonstrating hormone-like signaling. (wikipedia.org)
  • In addition, we describe the location and sequence of chnE , a gene that encodes 6-oxohexanoate dehydrogenase activity. (asm.org)
  • Gene yìí máa ń kóòdù fún succinic semialdehyde dehydrogenase tí ó gbójú lé NAD + ti mitochondria. (wikipedia.org)
  • Biochemical and genetic studies confirmed that the succinate dehydrogenase gene ( sdh ) is affected and that suppression is mediated by the same intergenic and indirect mechanism that generates succinate independence in partial revertants of lipoamide dehydrogenase mutants (Creaghan & Guest, 1977). (microbiologyresearch.org)
  • It is important in the degradation of γ-aminobutyric acid in humans, and deficiency of the enzyme causes serious health effects (succinic semialdehyde dehydrogenase deficiency). (wikipedia.org)
  • Dysregulation of succinate synthesis, and therefore ATP synthesis, happens in some genetic mitochondrial diseases, such as Leigh syndrome , and Melas syndrome , and degradation can lead to pathological conditions, such as malignant transformation, inflammation and tissue injury. (wikipedia.org)
  • Molecular analysis of the anaerobic succinate degradation pathway in Clostridium kluyveri. (northwestern.edu)
  • Most of these mutations change one protein building block (amino acid) in the succinic semialdehyde dehydrogenase enzyme. (nih.gov)
  • The incidence of isocitrate dehydrogenase (IDH) mutations is high in low-grade gliomas. (biomedcentral.com)
  • Reversion studies have shown that this requirement can be suppressed by gal -linked mutations which inactivate succinate dehydrogenase. (microbiologyresearch.org)
  • A series of isogenic strains containing all combinations of mutations affecting 2-oxoglutarate dehydrogenase ( sucA ), succinate dehydrogenase ( sdh ), isocitrate lyase ( aceA ) and fumarate reductase ( frd ) in a background lacking succinate semialdehyde dehydrogenase, was constructed to assess the importance of these enzymes as sources of endogenous succinate (succinyl-CoA) during aerobic and anaerobic growth on glucose. (microbiologyresearch.org)
  • glutathione-dependent formaldehyde dehydrogenase. (qmul.ac.uk)
  • The metabolism of 1,4-14C-succinate and 2,3-14C-succinate and the activity of succinic semialdehyde dehydrogenase (EC 1.2.1.16) were studied in germinating seeds of castor oil plants ( Ricinus communis L.). Succinate metabolism involved succinate dehydrogenase and was sensitive to metabolites of. (ebscohost.com)
  • While product inhibition by succinate was not observed, NADH inhibited the enzyme competitively with respect to NAD+ and noncompetitively with respect to SSA. (bvsalud.org)
  • Pyruvic acid or pyruvate is a key intermediate in the glycolytic and pyruvate dehydrogenase pathways, which are involved in biological energy production. (drugbank.ca)
  • Another is activation of pyruvate dehydrogenase, promoting its own oxidation by inhibiting pyruvate dehydrogenase kinase. (drugbank.ca)
  • Pyruvate dehydrogenase is inactivated in ischemia myocardium. (drugbank.ca)
  • beta-Alanine can undergo a transanimation reaction with pyruvate to form malonate-semialdehyde and L-alanine. (hmdb.ca)
  • Glyceraldehyde 3 Phosphate Dehydrogenase, supplied by Millipore, used in various techniques. (bioz.com)
  • Glyceraldehyde 3 Phosphate Dehydrogenase Gapdh, supplied by Abcam, used in various techniques. (bioz.com)
  • Dehydrogenase (DHO) is one of the most common types of enzyme that is crucial in oxidation reactions. (intechopen.com)
  • Anaerobically, either isocitrate lyase or fumarate reductase is essential for succinate-independent growth on glucose. (microbiologyresearch.org)
  • New pieces to the carbon metabolism puzzle of Nitrosomonas europaea: Kinetic characterization of glyceraldehyde-3 phosphate and succinate semialdehyde dehydrogenases. (nih.gov)
  • [6] As such, succinate links cellular metabolism , especially ATP formation, to the regulation of cellular function. (wikipedia.org)
  • The increased activities of isocitrate dehydrogenase (ICDH)- (NAD)P dependent and aminotransaminases aided the exocellular secretion of KG. (laurentian.ca)
  • Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. (uniprot.org)
  • Definition of succinate dehydrogenase in the Definitions.net dictionary. (kwch.org)
  • C. kluyveri can also ferment 2 ethanol and 2 succinate to 4 acetate, 1 butyrate, and 0.1 H 2 ( 12 ) and 2 crotonate to 2 acetate, 1 butyrate, and 0.1 H 2 ( 13 , 14 ). (pnas.org)