Biomaterial Database

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency. 1985

C Erasmus, and L J Mienie, and C J Reinecke, and S K Wadman

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007773	Lactates	Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.
D008025	Ligases	A class of enzymes that catalyze the formation of a bond between two substrate molecules, coupled with the hydrolysis of a pyrophosphate bond in ATP or a similar energy donor. (Dorland, 28th ed) EC 6.	Ligase,Synthetases,Synthetase
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
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001710	Biotin	A water-soluble, enzyme co-factor present in minute amounts in every living cell. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk.	Vitamin H,Biodermatin,Biokur,Biotin Gelfert,Biotin Hermes,Biotin-Ratiopharm,Biotine Roche,Deacura,Gabunat,Medebiotin,Medobiotin,Rombellin,Biotin Ratiopharm,Gelfert, Biotin,Hermes, Biotin,Roche, Biotine
D014631	Valerates	Derivatives of valeric acid, including its salts and esters.	Pentanoate,Pentanoates,Valerate
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
D043586	Methylmalonyl-CoA Decarboxylase	A carboxy-lyase that catalyzes the DECARBOXYLATION of (S)-2-Methyl-3-oxopropanoyl-CoA to propanoyl-CoA. In microorganisms the reaction can be coupled to the vectorial transport of SODIUM ions across the cytoplasmic membrane.	(S)-methylmalonyl-CoA Decarboxylase (Sodium-Transporting),Methylmalonyl-Coenzyme A Decarboxylase,Decarboxylase, Methylmalonyl-CoA,Decarboxylase, Methylmalonyl-Coenzyme A,Methylmalonyl CoA Decarboxylase,Methylmalonyl Coenzyme A Decarboxylase