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

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.

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net 1,2,3,4,6,7,6,9 KETOACIDURIA See: Maple Syrup Urine Disease KETOTIC HYPERGLYCINEMIA See: Acidemia, Organic KID SYNDROME See: Ectodermal Dysplasias; Ichthyosis; Hearing Impairments KIDNEY DISEASES, HEREDITARY See also: Cystinosis; Kidney Disorders; Oxalosis & Hyperoxaluria Hereditary Nephritis Foundation 1390 W.