methylmalonic acidemia


Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.

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 ?
Globus pallidus involvement as initial presentation of methylmalonic acidemia. MovDisord.
Unfortunately, the diagnosis of methylmalonic acidemia in her second child was not allowed as evidence in Stallings murder trial because the judge ruled that her defense attorney had been unable to come up with an expert witness who could testify that the genetic disease could be confused with finding ethylene glycol in the blood.
M2 PHARMA-May 11, 2018-LogicBio Therapeutics Preclinical Data Demonstrate Potential for LB-001 to Address Underlying Cause of Methylmalonic Acidemia
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
C3-carnitine is the newborn screen metabolite used for detection of MMMdeficiency (known as methylmalonic acidemia) because C4-dicarboxylcarnitine elevations (MMA-carnitine or succinyl-carnitine) are not consistently or sufficiently increased to enable differentiation of patients from those who are unaffected; the backup to propionyl-CoA and C3-carnitine is more readily detectable.
Four disorders accounted for an estimated 50 or more cases (methylmalonic acidemia attributed to mutase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, carnitine uptake defect, and biotinidase deficiency).
Methylmalonic Acidemia: An IND application has been submitted to the FDA for mRNA-3704, Moderna's development candidate for MMA.
M2 PHARMA-December 20, 2017-Moderna Publishes Preclinical Data on mRNA Therapeutic for Treatment of Methylmalonic Acidemia
Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of amino acid metabolism affecting 1 in 50 000 to 1 in 100 000 individuals (6,7).
He was initially diagnosed with methylmalonic acidemia, and a day later the diagnosis was revised to PA when the lab results were completed.
The hyperammonemia observed in methylmalonic acidemia is thought to arise because accumulated propionyl CoA interferes with formation of N-acetylglutamate, an obligatory activator of carbamyl phosphate synthase, the initial step in urea synthesis (4).