| MEDAC Syndrome | Multiple-Endocrine Deficiency Autoimmune-Candidiasis |
|---|---|
| MR | 1) Mitral Regurgitation = MI 2) Minor Response... |
| PKD | Pyruvate Kinase Deficiency |
| SCID | Severe Combined Immuno-Deficiency; 중증 복합 면역 결핍증 |
| WAGR syndrome | Wilms's Tumor Aniridia Genital Anomalies Me... |
| 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 oxidase | <enzyme> Acetaldehyde is converted to acetate Registry number: EC 1.2.- (26 Jun 1999) |
| acyl-CoA oxidase | <enzyme> Catalyses stoichiometric conversion of palmitoyl-CoA and o2 into 2-hexadecenoyl-CoA and h2o2; oxidises acyl-CoA's with carbon chain lengths of 4 to 20; most active toward lauroyl-CoA, but not acetyl- or succinyl-CoA Registry number: EC 1.3.3.6 Synonym: fatty acyl CoA oxidase, fatty acyl-coenzyme a oxidase, fatty acid acyl-CoA oxidase, acox, pox1 gene product (26 Jun 1999) |
| adrenaline oxidase | amine oxidase (flavin-containing) |
| aldehyde oxidase | <enzyme> Broad substrate specificity Registry number: EC 1.2.3.1 Synonym: n1-methylnicotinamide oxidase I, n-nitrosoreductase (26 Jun 1999) |
| alternative oxidase | <enzyme> The terminal oxidase in alternative pathway respiration, as seen in plants like sauromatum guttatum (voodoo lily); amino acid sequence for tobacco alternative oxidase (aox1) in first source Registry number: EC 1.- Synonym: aox1 gene product, aox2 gene product, aox3 gene product (26 Jun 1999) |
| alternative oxidase pathway | Pathway of mitochondrial electron transport in higher plants, particularly in fruits and seeds, that does not involve cytochrome oxidase and thus is resistant to cyanide. (18 Nov 1997) |
| amine oxidase | <enzyme> A group of enzymes including those oxidizing primary monoamines, diamines, and histamine. They are copper proteins, and, as their action depends on a carbonyl group, they are sensitive to inhibition by saemicarbazide. Chemical name: Amine:oxygen oxidoreductase (deaminating)(copper-containing) Registry number: EC 1.4.3.6 (12 Dec 1998) |
| amine oxidase (copper-containing) | An oxidoreductase containing copper, and perhaps pyridoxal phosphate, and carrying out the same reaction as amine oxidase (flavin-containing). Synonym: amine oxidase (pyridoxal-containing), diamine oxidase, diamino oxyhydrase, histaminase. (05 Mar 2000) |
| amine oxidase (flavin-containing) | An oxidoreductase containing flavin and oxidizing amines with the aid of O2 and water to aldehydes or ketones with the release of NH3 and H2O2. Acted upon by antidepressants. Synonym: adrenaline oxidase, diamine oxidase, monoamine oxidase, tyraminase, tyramine oxidase. (05 Mar 2000) |