acidemia

(redirected from Methylmalonic acidemia)
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acidemia

[‚as·ə′dēm·ē·ə]
(medicine)
A condition in which the pH of the blood falls below normal.
References in periodicals archive ?
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.
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.
The natural history of the inherited 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.
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.
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
Consequently, a mother was falsely accused of poisoning her infant son who, in fact, had an inherited metabolic disease, methylmalonic acidemia.
methylmalonic acidemia (MMA), medium-chain acyl CoA dehydrogenase deficiency, etc.