| 释义 |
ketotic hyperglycinemia 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 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. |