| mm | methylmalonyl; millimeter; mucous membrane; muscles |
|---|
| MMA | Methylmalonic acidemia |
|---|---|
| MCM | Methylmalonyl CoA mutase |
| methylmalonyl-CoA | An intermediate in the degradation of several metabolites (e.g., valine, methionine, odd-chain fatty acids, theronine); elevated in cases of pernicious anaemia. (05 Mar 2000) |
|---|---|
| methylmalonyl-CoA epimerase | <enzyme> An enzyme that catalyses the interconversion of d-methylmalonyl-CoA and l-methylmalonyl-CoA. (05 Mar 2000) |
| methylmalonyl-CoA mutase | <enzyme> An enzyme that catalyses the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. Chemical name: (R)-2-Methyl-3-oxopropanoyl-CoA CoA-carbonylmutase Registry number: EC 5.4.99.2 (12 Dec 1998) |
| D-methylmalonyl coenzyme A hydrolase | <enzyme> does not act on l-methylmalonyl-CoA Registry number: EC 3.1.2.- Synonym: d-methylmalonyl CoA hydrolase (26 Jun 1999) |
| acidemia | An increase in the H-ion concentration of the blood or a fall below normal in pH, notwithstanding alterations in bicarbonate concentration. Individual types of acidemia are listed by specific name, e.g., isovalericacidemia, aminoacidemia, etc. Origin: acid + G. Haima, blood (05 Mar 2000) |
| methylmalonic acidemia | ketotic hyperglycinaemia |
| propionic acidemia | ketotic hyperglycinaemia |
| hyperpipecolic acidemia | A metabolic disorder in which serum concentrations of pipecolic acid are greatly increased; characterised by hepatomegaly and progressive, generalised demyelination of the nervous system. Synonym: hyperpipecolic acidemia. (05 Mar 2000) |
| isovaleric acidemia | A disorder of leucine metabolism characterised by the excessive production of isovaleric acid upon protein ingestion or during infectious episodes; severe metabolic acidosis results from the large quantities of acid formed; autosomal recessive inheritance; due to a deficiency of isovaleryl-CoA dehydrogenase. Synonym: sweaty feet syndrome. (05 Mar 2000) |
| lactic acidemia | The presence of dextrorotatory lactic acid in the circulating blood. Synonym: lactacidemia. Origin: Lactic acid + G. Haima, blood (05 Mar 2000) |
| 2-ketoadipic acidemia | Elevated levels of 2-ketoadipic acid in the serum. (05 Mar 2000) |
| fumaric acidemia | Elevated levels of fumarate in blood plasma; due to a decrease in activity of fumarate hydratase. (05 Mar 2000) |
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