| methylmalonic acidemia | ketotic hyperglycinaemia |
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| methylmalonic acid | <chemical> Methylpropanedioic acid. A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA. Chemical name: Propanedioic acid, methyl- (12 Dec 1998) |
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| methylmalonic acidaemia | <biochemistry> A group of inherited metabolic disorders that result in the accumulation of methylmalonic acid in the bloodstream. This leads to a severe metabolic acidosis (and ketosis) that can be fatal. A defect in the metabolic pathway of methylmalonic acid, vitamin B12 and succinic acid is the underlying cause. An infection can trigger a bout of acidosis. A low protein diet is essential in these patients. Occasionally large doses of vitamin B12 or an alkalinising agent (bicarbonate) will be necessary to treat acute exacerbations of acidosis. Origin: Gr. Haima = blood (27 Sep 1997) |
| methylmalonic aciduria | Excretion of excessive amounts of methylmalonic acid in urine owing to deficient activity of methylmalonyl-CoA mutase or deficient cobalamin reductase. Two types occur: 1) an inborn error of metabolism resulting in severe ketoacidosis shortly after birth, with long-chain urinary ketones; autosomal recessive inheritance; 2) acquired, a type due to vitamin B12 deficiency due to defective synthesis of adenosylcobalamin. (05 Mar 2000) |
| 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) |
| 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) |