| MMA | Methylmalonic acidemia |
|---|
| 2-ketoadipic acidemia | Elevated levels of 2-ketoadipic acid in the serum. (05 Mar 2000) |
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| 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) |
| 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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