| pyruvate carboxylase deficiency | An autosomal recessive pyruvate metabolism disorder resulting from absent or deficient expression of pyruvate carboxylase activity. Decreased production of oxaloacetate leads to decreased gluconeogenesis, thereby causing fasting hypoglycaemia, lactic acid acidosis, and decreased synthesis of amino acid neurotransmitters. Clinical presentations include acidosis, ataxia, mental retardation; sometimes co-occurs with leigh disease. (12 Dec 1998) |
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| pyruvate carboxylase | <enzyme> An enzyme that catalyses the formation of oxaloacetate from pyruvate, carbon dioxide and ATP in gluconeogenesis. (18 Nov 1997) |
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| multiple carboxylase deficiency | Abnormalities in carbohydrate and branched-chain amino acid catabolism that are responsive to biotin therapy. It may be due to deficiency of propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, biotinidase, or propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. (12 Dec 1998) |
| pyruvate dehydrogenase complex deficiency | An autosomal recessive pyruvate metabolism disorder resulting from deficient enzyme activity in one of several proteins of pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA. Deficiency in acetyl CoA product reduces the synthesis of acetylcholine, thereby causing neurological abnormalities. Clinical presentations include lactic acidosis, mental retardation, and ataxia. (12 Dec 1998) |
| pyruvate kinase deficiency | A disorder in which there is a deficiency of pyruvate kinase in red blood cells; characterised by haemolytic anaemia varying in degree from one patient to another; autosomal recessive inheritance. (05 Mar 2000) |
| acetone carboxylase | <enzyme> An ATP-dependent carboxylase Registry number: EC 4.1.1.- (26 Jun 1999) |
| acetyl-CoA carboxylase | <enzyme> A carboxylating enzyme that catalyses the conversion of ATP, acetyl-CoA, and hco3- to ADP, orthophosphate, and malonyl-CoA. It is a biotinyl-protein that also catalyses transcarboxylation. The plant enzyme also carboxylates propanoyl-CoA and butanoyl-CoA Chemical name: Acetyl-CoA:carbon-dioxide ligase (ADP-forming) Registry number: EC 6.4.1.2 (12 Dec 1998) |
| acetyl CoA carboxylase phosphatase | <enzyme> Phosphatase occurs in complex with the carboxylase Registry number: EC 3.1.3.- Synonym: acc-phosphatase, acetyl coenzyme a carboxylase phosphatase (26 Jun 1999) |
| acyl-CoA carboxylase | <enzyme> Catalyses carboxylation (ATP, mg ++, mco(3)-dependent) of acetyl-CoA, propionyl CoA, and butyryl CoA; from nematode turbatrix aceti Registry number: EC 6.4.1.- Synonym: acyl-coenzyme a carboxylase (26 Jun 1999) |
| biotin carboxylase | <enzyme> A subunit of acetyl-CoA carboxylase Registry number: EC 6.3.4.14 (26 Jun 1999) |
| carboxylase | 1. One of several carboxy-lyases, trivially named carboxylases or decarboxylases (EC subclass 4.1.1), catalyzing the addition of CO2 to all or part of another molecule to create an additional -COOH group (e.g., ribulose-1,5-bisphosphate carboxylase). 2. Obsolete name for pyruvate decarboxylase. (05 Mar 2000) |
| gamma-glutamyl carboxylase | <enzyme> An enzyme that catalyses the formation of gamma-carboxyglutamyl residues in many proteins, several appearing in the blood clotting cascade. (05 Mar 2000) |
| glutamyl carboxylase | <enzyme> Carboxylates glutamyl residues in a microsomal protein precursor of plasma prothrombin to form gamma-carboxyglutamic acid residues Registry number: EC 6.4.- Synonym: vitamin k-dependent carboxylase, glutamate carboxylase, vitamin k dependent carboxylase, vitamin k-dependent gamma-glutamyl carboxylase, k-dependent carboxylase, gamma-glutamyl carboxylase (26 Jun 1999) |
| PEP carboxylase | <enzyme> Enzyme responsible for the primary fixation of carbon dioxide in C4 plants. Carboxylates PEP phosphoenolpyruvate to give oxaloacetate. Also important in crassulacean acid metabolism, since it is responsible for carbon dioxide fixation in the dark. (18 Nov 1997) |
| ribulose-1,5-bisphosphate carboxylase | A dimerizing carboxy-lyase; an enzyme that catalyses the addition of carbon dioxide to d-ribulose 1,5-bisphosphate and the hydrolysis of the addition product to two molecules of 3-d-phosphoglyceric acid, a key reaction in the fixation of CO2 in photosynthesis. Synonym: carboxydismutase. (05 Mar 2000) |
| ribulose-1,5-bisphosphate carboxylase-oxygenase large subunit epsilonN-methyltransferase | <enzyme> An aspect of EC 2.1.1.43; trimethylates lys-14 of rubisco Registry number: EC 2.1.1.- Synonym: rubisco lsmt, rubisco large subunit lysine n-methyltransferase (26 Jun 1999) |