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

Farlex Partner Medical Dictionary © Farlex 2012

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.

Medical Dictionary for the Dental Professions © Farlex 2012

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References in periodicals archive ?

Due to the suspicion of non ketotic hyperglycinemia (NKH), Illumina Inherited Disease Sequencing Panel analysis performed and it was negative for NKH genes (glycine decarboxylase-GLDC, aminomethyltransferase, glycine cleavage system H protein-GCSH genes).

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. Eur J Paediatr Neurol.

A case of hypertriglyceridaemia (?transient infantile hypertriglyceridaemia) with associated hyperglycinaemia and carnitine deficiency

Birmingham, AL 35226 Contact: Karen Dixon (205) 979-2021 * ktdixon1@home.com http://www.bilirubin.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.