methylmalonic acidemia

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. Synonym(s): methylmalonic acidemia, propionic acidemia

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.

单词	methylmalonic acidemia
释义	DictionarySeeacidemia methylmalonic acidemia 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. Synonym(s): methylmalonic acidemia, propionic acidemia 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.
随便看	nlwa nlwc nlwcb nlwchs nlwd nlwf nlwg nlwis nlwly nlwo nlwp nlwr nlwra nlwrs nlws nlx nlxc nlxh nlx motherboard nlxs nly nlyc nlyl n-lysine methyltransferase setd6 n-lysine methyltransferase setd8