Genetic deficiency

Antibodies have been generated which produce immunoassays that discriminate between GH-V and GH-N. These assay systems have shown that the secretion of GH-V becomes elevated at about three weeks of pregnancy and increases to approximately 15 ng/mL near term (8). The physiological role of GH-V is uncertain. Genetic deficiency of GH-V does not adversely affect pregnancy or fetal development (9). GH-V is a potent growth-stimulator but possesses considerably less lactogenic activity than GH-N (10). There are no clinical appHcations (ca 1993) for GH-V. [Pg.181]

The cause of drug idiosyncrasy is not clear. It is believed to be due to a genetic deficiency that makes the patient unable to tolerate certain chemicals, including drugs. [Pg.9]

Genetic deficiency of glucose-6-phosphate dehydrogenase, with consequent impairment of the generation of NADPH, is common in populations of Mediterranean and Afro-Caribbean origin. The defect is manifested as red cell hemolysis (hemolytic anemia) when susceptible individuals are subjected to oxidants, such as the an-timalarial primaquine, aspirin, or sulfonamides or when... [Pg.169]

Genetic Deficiencies of Glycoprotein Lysosomal Hydrolases Cause Diseases Such as a-Mannosidosis... [Pg.532]

The GAGs are synthesized by the sequential actions of a battery of specific enzymes (glycosyltransferases, epimerases, suhotransferases, etc) and are degraded by the sequential action of lysosomal hydrolases. Genetic deficiencies of the latter result in mucopolysaccharidoses (eg, Hurler syndrome). [Pg.554]

An important namral inhibitor of coagulation is antithrombin III genetic deficiency of this protein can result in thrombosis. [Pg.608]

Methemoglobinemia Intake of excess oxidants (various chemicals and drugs) Genetic deficiency in the NADH-dependent methemoglobin reductase system (MIM 250800) Inheritance of HbM (MIM 141800)... [Pg.610]

Lenders, JWM, Eisenhofer, G, Abeling, NGGM et al. (1996) Specific genetic deficiencies of the A and B isoenzimes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J. Clin. Invest. 97 1010-1019. [Pg.184]

In all these studies, isothiocyanates appeared to reduce the risk of neoplasia preferentially amongst persons genetically deficient in GSTTl and GSTMl. [Pg.54]

Understanding of the importance of chemokines and their receptors in the atherosclerotic disease process has come in large part from the use of genetically deficient mice. [Pg.206]

Sallee FR, DeVane CL, Ferrell RE. Fluoxetine-related death in a child with cytochrome P-450 2D6 genetic deficiency. [Pg.394]

A (very rare) genetic deficiency in the production of factor XIII also results in impaired clotting efficacy in affected persons. In this case, covalent links that normally characterize transformation of a soft clot into a hard clot are not formed. Factor XIII preparations, partially purified from human blood, are used to treat individuals with this condition to date, no recombinant version of the product has been commercialized. [Pg.340]

Plasma-derived antithrombin concentrates have been used medically since the 1980s for the treatment of hereditary and acquired antithrombin deficiency. Hereditary (genetic) deficiency is characterized by the presence of little/no native antithrombin activity in plasma and results in an increased risk of inappropriate blood clot/emboli formation. Acquired antithrombin deficiency can be induced by drugs (e.g. heparin and oestrogens), liver disease (decreased antithrombin... [Pg.344]

Strain genetically deficient in copper (Menkes disease) given subcutaneous injections of 50 pg copper chloride (CuCI2) on postnatal days 7 and 10. Before therapy, liver copper concentration was 3.1 mg/kg FW (vs. 30.1 mg/kg FW in normal mice)... [Pg.204]

ApoA-1 is the major structural lipoprotein component of HDL particles. Transgenic over-expression of apoA-1 has been well documented to correlate very strongly with antiatherogenic effects seen in a number of animal models [89-91]. The genetic deficiency of apoA-1 in humans has also been linked to low levels of HDL and premature atherosclerosis [90-92]. It is believed that infusion of apoA-1 enhances the ABCAl-mediated cholesterol efflux from macrophages [93]. During the last decade, significant efforts have been spent to find small... [Pg.184]

Pentostatin (2,-deoxycoformycin) is an adenosine analog that is a potent inhibitor of adenosine deaminase. Pentostatin is particularly useful for treating T-cell leukemia since malignant T cells have higher levels of adenosine deaminase than most cells. Similar to individuals that are genetically deficient in adenosine deaminase, treat-... [Pg.544]

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