| glucosephosphate dehydrogenase deficiency | A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of enzyme activity in erythrocytes, leading to haemolytic anaemia. (12 Dec 1998) |
|---|---|
| deficiency, glucose-6-phosphate dehydrogenase | Deficiency of G6PD is the commonest disease-causing enzyme defect in humans affecting an estimated 400 million people. The G6PD gene is on the X chromosome. Males with the enzyme deficiency develop anaemia due to breakup of their red blood cells when they are exposed to oxidant drugs such as the antimalarial primaquine, the sulfonamide antibiotics or sulfones, naphthalene moth balls, or fava beans. (12 Dec 1998) |
| mycobacterium avium complex disease | <infectious disease> A disease process caused by infection by the organism Mycobacterium avium intracellulare. Almost unheard of in a patient with a normal functioning immune system, this can be a common infection in those with advanced HIV infection. (27 Sep 1997) |
| immune complex disease | An immunologic category of diseases evoked by the deposition of antigen-antibody or antigen-antibody-complement complexes on cell surfaces, with subsequent involvement of breakdown products of complement, platelets, and polymorphonuclear leukocytes, and development of vasculitis; nephritis is common. Arthus phenomenon and serum sickness are classic examples, but many other disorders, including most of the connective tissue disease's, may belong in this immunologic category; immune complex disease's can also occur during a variety of disease's of known aetiology, such as subacute bacterial endocarditis. See: autoimmune disease. Synonym: immune complex disorder, type III hypersensitivity reaction. (05 Mar 2000) |
| antibody deficiency disease | <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency. Synonym: antibody deficiency disease. (05 Mar 2000) |
| deficiency disease | Any disease resulting from undernutrition or an inadequacy of calories, proteins, essential amino acids, fatty acids, vitamins, or trace minerals. (05 Mar 2000) |
| thrombotic disease due to protein c deficiency | Protein C is a protein in plasma that enters into the cascade of biochemical events leading to the formation of a clot. Deficiency of protein c results in thrombotic (clotting) disease and excess platelets with recurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). The clot can break loose and travel through the blood stream (thromboembolism) to the lungs causing a pulmonary embolism, brain causing a stroke (cerebrovascular accident), heart causing an early heart attack, skin causing what in the newborn is called neonatal purpura fulminans, the adrenal gland causing haemorrhage with abdominal pain, abnormally low blood pressure (hypotension), and salt loss. Protein c deficiency is due to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possession of two such genes (homozygosity) is usually lethal. (12 Dec 1998) |
| active pyruvate | An intermediate formed in the oxidative decarboxylation of pyruvate. Compare: pyruvate dehydrogenase (lipoamide). Synonym: alpha-lactyl-thiamin pyrophosphate. (05 Mar 2000) |
| beta-alanine-pyruvate aminotransferase | <enzyme> An enzyme that reversibly transfers the amino group of beta-alanine to paruvate, thus producing l-alanine and malonate saemialdehyde. A deficiency of this enzyme is believed to be the cause of hyper-beta-alaninaemia. (05 Mar 2000) |
| beta-aminoisobutyrate:pyruvate aminotransferase | Beta-aminosiobutyrate:pyruvate transaminase;an enzyme that catalyses the reversible transfer of an amino group from beta-aminoisobutyrate to pyruvate, producing l-alanine and methylmalonate saemialdehyde. A step in valine degradation. A deficiency of beta-aminoisobutyrate:pyruvate aminotransferase results in hyper-beta-aminoisobutyric aciduria. (05 Mar 2000) |
| valine-pyruvate transaminase | <enzyme> E coli enzyme catalyzing the terminal step of valine biosynthesis; consider also EC 2.6.1.42, branched-chain-amino-acid transaminase; alanine-alpha-oxoisovalerate aminotransferase and alanine-alpha-ketoisovalerate aminotransferase were ens to alanine aminotransferase 1981-93 Registry number: EC 2.6.1.66 Synonym: alanine-valine transaminase, transaminase c, alanine alpha-ketoisovalerate aminotransferase, alanine-alpha-oxoisovalerate aminotransferase, alanine-alpha-ketoisovalerate aminotransferase (26 Jun 1999) |
| glutamine-pyruvate aminotransferase | <enzyme> Consider also glutamine transaminase k if cysteine conjugate beta-lyase activity is also present; l-methionine can act as donor; glyoxylate can act as acceptor Registry number: EC 2.6.1.15 Synonym: glutamine alpha-ketoacid transaminase, glutamine transaminase, glutamine transaminase l, glutamine oxo-acid aminotransferase, glutaminase II, glutamine aminotransferase, l-methionine aminotransferase (26 Jun 1999) |
| chorismate pyruvate-lyase | <enzyme> Forms 4-hydroxybenzoic acid for ubiquinone biosynthesis; chorismate pyruvate-lyase (amino-accepting) is anthranilate synthase Registry number: EC 4.1.3.- Synonym: ubic gene product, chorismate lyase (26 Jun 1999) |
| serine-pyruvate aminotransferase | <enzyme> Do not confuse with alanine-glyoxylate aminotransferase (EC 2.6.1.44), even though they may be products of the same gene; index whichever is discussed or both Registry number: EC 2.6.1.51 Synonym: serine aminotransferase, serine-pyruvate transaminase (26 Jun 1999) |
| pyruvate | <biochemistry> Pyruvate is the final product of glycolysis. You get two molecules of pyruvate for every molecule of glucose that goes through glycolysis. (22 Aug 1998) |