释义 |
DictionarySeeacidemiamethylmalonic acidemia
ketotic hyperglycinemiaan 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. Synonym(s): methylmalonic acidemia, propionic acidemiamethylmalonic acidemiaAn 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: acidemiake·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. |