| FIGD | familial idiopathic gonadotropin deficiency |
|---|---|
| FMFD | V familial multiple coagulation factor deficiency V |
| GHD | growth hormone deficiency |
| GKD | glycerol kinase deficiency |
| GRANDDAD | growth delay-aged facies-normal development-deficiency of subcutaneous fat [syndrome] |
| lecithin acyltransferase deficiency | A disease characterised by deficiency or low levels of plasma lecithin cholesterol acyl transferase. Clinical manifestations include corneal opacity, anaemia, and proteinuria. (12 Dec 1998) |
|---|---|
| fructose-1,6-diphosphatase deficiency | An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycaemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal. (12 Dec 1998) |
| leukocyte adhesion deficiency | An inherited disorder (autosomal recessive) in which there is a defective CD18 adherence complex that disturbs leukocyte chemotaxis. It is characterised by recurrent bacterial infections and impaired wound healing. (05 Mar 2000) |
| leukocyte-adhesion deficiency syndrome | <syndrome> Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (receptors, leukocyte-adhesion) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterised by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (12 Dec 1998) |
| lipoprotein lipase deficiency, familial | A rare familial condition characterised by massive chylomicronaemia and decreased levels of other lipoproteins. It is due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyses an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. (12 Dec 1998) |
| luteal phase deficiency | Inadequate function of the corpus luteum that may prevent a fertilized egg from implanting in the uterus or may lead to early pregnancy loss. (09 Oct 1997) |
| acetaldehyde dehydrogenase | <enzyme> Works with both nad and nadp Registry number: EC 1.2.1.5 Synonym: aldehyde dehydrogenase (NADP+), naho gene product (26 Jun 1999) |
| acetoin dehydrogenase | <enzyme> An enzyme that catalyses the conversion of acetoin to diacetyl in the presence of NAD. Chemical name: Acetoin:NAD+ oxidoreductase Registry number: EC 1.1.1.5 (12 Dec 1998) |
| acetol dehydrogenase | <enzyme> Forms methylglyoxal; uses nad+ Registry number: EC 1.1.1.- Synonym: 1-hydroxyacetone dehydrogenase (26 Jun 1999) |
| acyl-ACP dehydrogenase | enoyl-ACP reductase (NADPH) |
| acyl-CoA dehydrogenase | <enzyme> See also records for specific fatty acyl groups which have full EC nomenclature number; electron-transferring flavoprotein system reducing ubiquinone and other acceptors; formerly EC 1.3.2.2 Registry number: EC 1.3.99.3 Synonym: fatty-acyl CoA dehydrogenase, palmitoyl-CoA dehydrogenase, short-chain acyl-CoA dehydrogenase, acyl-coenzyme a dehydrogenase, lauroyl-CoA oxidase (26 Jun 1999) |
| acyl-CoA dehydrogenase (NADPH+) | Enzyme catalyzing the reversible reduction of enoyl-CoA derivatives of chain length 4 to 16, with NADPH as the hydrogen donor, forming acyl-CoA and NADP+. Synonym: enoyl-CoA reductase. (05 Mar 2000) |
| alanopine dehydrogenase | <enzyme> Catalyses reductive elimination between pyruvate and alanine, or glycine, utilizing NADH as coenzyme, producing 2,2'-iminodipropionic acid (alanopine) Registry number: EC 1.5.1.- (26 Jun 1999) |
| alcohol dehydrogenase | <enzyme> An enzyme that catalyses reversibly the final step of alcoholic fermentation by reducing an aldehyde to an alcohol. In the case of ethanol, acetaldehyde is reduced to ethanol in the presence of NADH and hydrogen. The enzyme is a zinc protein which acts on primary and secondary alcohols or hemiacetals. Chemical name: Alcohol:NAD+ oxidoreductase Registry number: EC 1.1.1.1 (12 Dec 1998) |
| alcohol dehydrogenase (acceptor) | An oxidoreductase that reversibly converts primary alcohols to aldehydes with an H acceptor other than NADP+. (05 Mar 2000) |