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 ?
Secondly, the odds of having a second child with methylmalonic acidemia are only one in four.
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
The usefulness of the proposed method in giving a conclusive diagnosis for methylmalonic acidemia was assessed by a blinded retrospective study on DBS samples (n = 100) from known patients with methylmalonic acidemia (n = 33) or propionic acidemia (n = 33).
As shown in Table 1, three groups of specimens from confirmed methylmalonic acidemia cases were analyzed: asymptomatic newborn screening specimens; symptomatic neonate specimens submitted for metabolic screening; and specimens from known patients.
Similar considerations apply to methylmalonic acidemia, in which C4 dicarboxylate was increased in all individuals, in contrast to C3 carnitine, which was increased in only two of seven individuals (Fig.
Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia.
of underivatized MMA calibrator (100 [micro]g) and of a urine extract of a patient with methylmalonic acidemia, collected during an acute episode of metabolic decompensation, showed an excellent match of the two spectra without any apparent interference despite the complexity of the matrix.
Methylmalonic acid (MMA) [1] is a specific diagnostic marker for a group of inherited disorders collectively known as methylmalonic acidemias, which include at least eight different entities identified according to biochemical phenotype and somatic cell complementation analysis (1-3).
Methylmalonic acidemia results from the deficiency of the cobalamin-dependent enzyme methylmalonyl-CoA mutase (1).
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia.
Methylmalonic Acidemias [Adenosylcobalamin Synthesis Defects (CblA and CblB) and Methylmalonyl-CoA Mutase Deficiencies (mut- and mut+)]--An enzymatic defect in the oxidation of amino acids is the cause of these conditions, with an incidence of 1 in 50,000 to 1 in 100,000 live births.
Methylmalonic acidemias (MMAs) and propionic acidemias (PAs) comprise a group of congenital disorders of branched-chain amino acid metabolism (1).