Biomaterial Database

Pyruvate carboxylase deficiency. 1984

K Bartlett, and H K Ghneim, and J H Stirk, and G Dale, and K G Alberti

The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007773	Lactates	Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.
D008297	Male		Males
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D002262	Carboxy-Lyases	Enzymes that catalyze the addition of a carboxyl group to a compound (carboxylases) or the removal of a carboxyl group from a compound (decarboxylases). EC 4.1.1.	Carboxy-Lyase,Decarboxylase,Decarboxylases,Carboxy Lyase,Carboxy Lyases
D002956	Citrulline
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015324	Pyruvate Carboxylase Deficiency Disease	An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)	Ataxia with Lactic Acidosis, Type II,Lactic Acidosis with Ataxia, Type II,Ataxia with Lactic Acidosis 2,Ataxia with Lactic Acidosis II,Deficiency Disease, Pyruvate Carboxylase,Pyruvate Carboxylase Deficiency,Type II Ataxia with Lactic Acidosis,Deficiency, Pyruvate Carboxylase
D019344	Lactic Acid	A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)	Lactate,2-Hydroxypropanoic Acid,2-Hydroxypropionic Acid,Ammonium Lactate,D-Lactic Acid,L-Lactic Acid,Propanoic Acid, 2-Hydroxy-, (2R)-,Propanoic Acid, 2-Hydroxy-, (2S)-,Sarcolactic Acid,2 Hydroxypropanoic Acid,2 Hydroxypropionic Acid,D Lactic Acid,L Lactic Acid,Lactate, Ammonium