Biomaterial Database

Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases). 1985

R A Gravel, and B H Robinson

UI	MeSH Term	Description	Entries
D008715	Methionine	A sulfur-containing essential L-amino acid that is important in many body functions.	L-Methionine,Liquimeth,Methionine, L-Isomer,Pedameth,L-Isomer Methionine,Methionine, L Isomer
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011422	Propionates	Derivatives of propionic acid. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxyethane structure.	Propanoate,Propanoic Acid,Propionate,Propanoates,Propanoic Acid Derivatives,Propanoic Acids,Propionic Acid Derivatives,Propionic Acids,Acid, Propanoic,Acids, Propanoic,Acids, Propionic,Derivatives, Propanoic Acid,Derivatives, Propionic Acid
D011766	Pyruvate Carboxylase	A biotin-dependent enzyme belonging to the ligase family that catalyzes the addition of CARBON DIOXIDE to pyruvate. It is occurs in both plants and animals. Deficiency of this enzyme causes severe psychomotor retardation and ACIDOSIS, LACTIC in infants. EC 6.4.1.1.	Carboxylase, Pyruvate
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
D003001	Cloning, Molecular	The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.	Molecular Cloning
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
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