| inborn error of metabolism | A genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria. (05 Mar 2000) |
|---|---|
| inborn errors of metabolism | Term coined by A. Garrod in 1908 applying to heritable disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones) and phenylketonuria (pku) are a few of the hundreds of inborn errors of metabolism. (12 Dec 1998) |
| intermediary metabolism | Enzyme-catalysed processeswithin cells that extract energy from nutrientmolecules and use that energy to construct cellular components. (09 Oct 1997) |
| oxidative metabolism | Respiration in the biochemical sense. (18 Nov 1997) |
| electrolyte metabolism | The chemical changes that various essential minerals (e.g., sodium, potassium, calcium, magnesium) undergo in the tissues. (05 Mar 2000) |
| energy metabolism | Those metabolic reactions whose role is to release or to provide energy. (05 Mar 2000) |
| fat metabolism | Oxidation, decomposition, and synthesis of fats in the tissues. (05 Mar 2000) |
| fructose metabolism, inborn errors | Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosaemia, but with no clinical dysfunction; may produce a false-positive diabetes test. (12 Dec 1998) |
| galactose | <biochemistry> Hexose identical to glucose except that orientation of H and OH on carbon 4 are exchanged. A component of cerebrosides and gangliosides, glycoproteins. Lactose, the disaccharide of milk, consists of galactose joined to glucose by a _(1-4) glycosidic link. (18 Nov 1997) |
| galactose-1-phosphatase | <enzyme> From rat brain; requires mg for activity; phosphate is potent inhibitor Registry number: EC 3.1.3.- (26 Jun 1999) |
| galactose-1-phosphate | A phosphorylated derivative of galactose that is key in galactose metabolism; accumulates in certain types of galactosaemia. (05 Mar 2000) |
| galactose-1-phosphate uridylyltransferase | <enzyme> An enzyme catalyzing the reaction of UTP and alpha-d-galactose 1-phosphate to form UDPgalactose and pyrophosphate, the second and most important step in the metabolism of d-galactose; a deficiency of this enzyme results in an accumulation of galactose, galactose-1-phosphate, and galactitol. (05 Mar 2000) |
| galactose 3-O-sulfotransferase | <enzyme> Catalyses transfer of sulfate from adenosine 3'-phosphosulfate to methyl galactosides or terminal n-acetyllactosamine-containing carbohydrate chains Registry number: EC 2.8.2.- (26 Jun 1999) |
| galactose-6-phosphate dehydrogenase | <enzyme> Possibly a ketoaldose, phosphorylated at primary alcoholic group; found in goat liver cytoplasm, requires nad, has high substrate specificity Registry number: EC 1.1.1.- Synonym: hexose-6-phosphate dehydrogenase (26 Jun 1999) |
| galactose-6-phosphate isomerase | <enzyme> Converts galactose 6-phosphate to tagatose 6-phosphate Registry number: EC 5.3.1.- Synonym: galactose 6-phosphate isomerase, gal-6-p isomerase, tagatose-6-phosphate isomerase (26 Jun 1999) |