2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric acid in one's urine. It is either autosomal recessive or autosomal dominant.
Guanidinoacetate N-methyltransferase is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3.
In enzymology, an L-2-hydroxyglutarate dehydrogenase is an enzyme that catalyzes the chemical reaction
In enzymology, a 2-hydroxyglutarate synthase (EC 2.3.3.11) is an enzyme that catalyzes the chemical reaction
Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.
TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene.
Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene.
Isocitrate dehydrogenase [NADP], mitochondrial is an enzyme that in humans is encoded by the IDH2 gene.
Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.
Alpha-endosulfine is a protein that in humans is encoded by the ENSA gene.
Phosphorylase b kinase gamma catalytic chain, testis/liver isoform is an enzyme that in humans is encoded by the PHKG2 gene.
Dimethyladenosine transferase 1, mitochondrial; Transcription factor B1, mitochondrial is a mitochondrial enzyme that in is encoded by the TFB1M gene.
L-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the L2HGDH gene, also known as C14orf160, on chromosome 14.
Dihydropyrimidinase is an enzyme that in humans is encoded by the DPYS gene.
α-Hydroxyglutaric acid is an alpha hydroxy acid form of glutaric acid.
Transaldolase deficiency is a disease characterised by abnormally low levels of the transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway. It is caused by mutation in the transaldolase gene (TALDO1). It was first described by Verhoeven et al. in 2001.
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.
Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.
In enzymology, a D-2-hydroxyglutarate dehydrogenase is an enzyme that catalyzes the chemical reaction
Metabolite damage can occur through enzyme promiscuity or spontaneous chemical reactions. Many metabolites are chemically reactive and unstable and can react with other cell components or undergo unwanted modifications. Enzymatically or chemically damaged metabolites are always useless and often toxic. To prevent toxicity that can occur from the accumulation of damaged metabolites, organisms have damage-control systems that:
- Reconvert damaged metabolites to their original, undamaged form
- Convert a potentially harmful metabolite to a benign one
- Prevent damage from happening by limiting the build-up of reactive, but non-damaged metabolites that can lead to harmful products
