| 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) |
| anisotropic lipid | A lipid in the form of doubly refractive droplets. (05 Mar 2000) |
| annular lipid | The layer(s) of lipid bound to and/or surrounding an integral membrane protein. (05 Mar 2000) |
| brain lipid | Impure cephalin possessing marked haemostatic action when locally applied. (05 Mar 2000) |
| galactose-diphosphoglycosyl carrier lipid synthetase | <enzyme> Catalyses synthesis of gcl-pp-gal from udp gal and p-gcl; also catalyses exchange between the uridylyl moiety of udpgal and ump Registry number: EC 2.4.1.- (26 Jun 1999) |
| pneumonia, lipid | Pneumonia due to aspiration or inhalation of various oily or fatty substances. (12 Dec 1998) |
| neutral lipid storage disease | <syndrome> Congenital ichthyosis, leukocyte vacuoles, and variable involvement of other organ systems. Synonym: neutral lipid storage disease. (05 Mar 2000) |
| disease, lipid storage | A series of disorders due to inborn errors in lipid metabolism resulting in the abnormal accumulation of lipids in the wrong places (Examples include Gaucher, Fabry and Niemann-Pick diseases and metachromatic leukodystrophy). (12 Dec 1998) |