methylmalonic acidemia


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ketotic hyperglycinemia

an inherited metabolic disorder resulting from a deficiency of propionyl-CoA carboxylase PCC, the enzyme that converts propionate to methylmalonate and with biotin as a cofactor; caused by a mutation in the gene PCCA encoding propionyl-CoA on 13q or PCCB on 3q; the clinical features are episodic vomiting and lethargy with hyperammonemia, hyperglycinemia, and ketoacidosis; death may occur following seizures and coma.

methylmalonic acidemia

An inherited metabolic disease caused by inability to convert methylmalonic acid to succinic acid. The clinical signs are failure to grow, mental retardation, and severe metabolic acidosis. One form of the disease will respond to vitamin B12 given either in utero or to the mother before delivery.
See also: acidemia

ke·tot·ic hy·per·gly·ci·ne·mi·a

(kē-totik hīpĕr-glī-sēmē-ă)
Inherited metabolic disorder resulting from a deficiency of propionyl-CoA carboxylase PCC; clinical features are episodic vomiting and lethargy with hyperglycinemia and ketoacidosis; death may follow.
Synonym(s): methylmalonic acidemia.
References in periodicals archive ?
Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia.
Using the technique of gas chromatography, which separates the components of a mixture and displays the results as a series of peaks on chart paper, they had mistaken propionic acid, a substance found in the blood of people afflicted with methylmalonic acidemia, for ethylene glycol, the antifreeze ingredient.
However, experienced clinicians and newborn screening laboratories alike recognize that increased propionylcarnitine is not a perfect disease marker and in some large series, an infant with increased C3 species will more likely be categorized as a false positive vs affected with ametabolic disorder (1), an outcome far more desirable than the diagnosis of propionic or methylmalonic acidemia.
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria: a possible explanation for hyperammonemia in propionic and methylmalonic acidemia.
1 shows three chromatograms obtained for a calibrator solution of MMA and internal calibrator and for extracts of DBS samples from known patients with methylmalonic acidemia.
This is exemplified by individuals with methylmalonic acidemia, who had C4 dicarboxylate concentrations at least 3.
Methylmalonic acidemia with a severe chemical but benign clinical phenotype.
Some disorders, such as propionic acidemia, methylmalonic acidemia, pyroglutamic acidemia, and glutaric acidemia, can be reliably diagnosed from organic acid excretions because of the consistently high increases of characteristic acids.