Diseases metabolic

Pollitt, R. J., 1995. Disorders of mitochondrial long-chain fatty acid oxidation. Journal of Inherited Metabolic Disease 18 473—490. 

Recently, multidimensional GC has been employed in enantioselective analysis by placing a chiral stationary phase such as a cyclodextrin in the second column. Typically, switching valves are used to heart-cut the appropriate portion of the separation from a non-chiral column into a chiral column. Heil et al. used a dual column system consisting of a non-chiral pre-column (30 m X 0.25 mm X 0.38 p.m, PS-268) and a chiral (30 m X 0.32 mm X 0.64 p.m, heptakis(2,3-di-(9-methyl-6-(9-tert-butyldimethylsilyl)-(3-cyclodextrin) (TBDM-CD) analytical column to separate derivatized urinary organic acids that are indicative of metabolic diseases such as short bowel syndrome, phenylketonuria, tyrosinaemia, and others. They used a FID following the pre-column and an ion trap mass-selective detector following the... 

E. Podehrad, M. Heil, S. Leih, B. Geier, T. Beck, A. Mosandl, A. C. Sewell and H. Bohles, Analytical approach in diagnosis of inherited metabolic diseases maple syrup urine disease (MSUD)-simultaneous analysis of metabolites in urine by enantioselective multidimensional capillary gas chromatography-mass specti ometiy (enantio-MDGC-MS) , 7. High Resolut. Chromatogr. 20 355-362(1997). 

As described in the previous section, bile acids have evolved over the last years from regulators of bile acid homeostasis to general metabolic integrators. It is therefore not too surprizing that a number of bile acid-activated signaling pathways have become attractive targets for the treatment of gallstones and other metabolic diseases, such as obesity, type 2 diabetes, hyperlipidemia, and atherosclerosis. 

In conclusion, the discovery of incretins has now come to an end in terms of therapeutic strategy of metabolic diseases since new medicines will be put on the market these coming years. However, a lot more needs to be done with regard to the physiological role of the hormones. Whereas the major filed of investigation for GLP-1 now relates to the effect of the peptide on the central nervous system and on (3-cell proliferation, for GIP it remains to understand its role in the numerous tissues where the corresponding receptor is expressed. 

Metabolic diseases In the pancreatic (3-cells, KATP channel derived from >SUR1 and Kir6.2, links cellular metabolism to electrical activity and regulates insulin secretion. Mutations in SUR1 and Kir6.2 that result in loss of Katp channel function have been identified in families with familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI). 

Dole VP, Nyswander MN Heroin addiction a metabolic disease. Arch Intern Med 120 19-24, 1967... 

We wish to thank the National Institute of Arthritis and Metabolic Diseases, Grant AM-13529, for financial support. We also wish to thank Drs. Alexander Hampton, Stephen Benkovic, Richard Wolfenden, and Fred Kahan for informing us about their work prior to publication. 

In addition to the NOD mouse, Entelos has models for several human metabolic diseases (diabetes, obesity, and metabolic syndrome), inflammatory diseases (rheumatoid arthritis), and respiratory diseases (asthma and COPD). 

A knowledge of normal metabohsm is essential for an understanding of abnormalities underlying disease. Normal metabolism includes adaptation to periods of starvation, exercise, pregnancy, and lactation. Abnormal metabolism may result from nutritional deficiency, enzyme deficiency, abnormal secretion of hormones, or the actions of drugs and toxins. An important example of a metabolic disease is diabetes mellitus. 

Neither nitrogen of lysine undergoes transamination. Metabolic diseases of lysine catabolism include periodic and persistent forms of hyperlysinemia-ammonemia. 

Modified and reproduced, with permission, from DiNataie P, Neufeid EF The biochemicai diagnosis of mucopoiysaccharidoses, mucoiipidoses and reiated disorders, in Perspectives in Inherited Metabolic Diseases, voi 2. Barr B et ai (editors). Editiones Ermes (Miian),1979. 

Sequences of various bacterial genomes and other information.) Karolinska Institute Nutritional and Metabolic Diseases http // www.mic.ki.se/Diseases/cl8.html (Access to information on many nutritional and metabolic disorders.)... 

E. and Vlek-Noot, C. "The Use of Quantitative Cytochemlcal Analysis In Rapid Prenatal Detection and Somatic Cell Genetic Studies of Metabolic Diseases". Hlstochem. J.,... 

Not altered in renal or Polymorphic metabolism disease (decreased CL) but only one CYP4502D6,... 

Metabolic disease (e.g., Wilson s disease, primary oxalosis, and hyperlipidemia)... 

Adults and children 6 months of age and older who needed regular medical care or were in a hospital during the previous year because of a metabolic disease (such as diabetes), chronic kidney disease, or weakened immune system (including immune system problems caused by medicines or by infection with HIV/AIDS)... 

Influenza vaccine should be given yearly to all adults 50 years of age or older. Younger adults with chronic disorders of the cardiovascular or pulmonary systems, chronic metabolic diseases, renal dysfunction, immunosuppression, or disorders that compromise respiratory function should also be vaccinated. Women who will be pregnant during the winter months should be vaccinated against influenza. 

Lipidic Nutrients and Prevention of Metabolic Diseases Unit... 

Martin has used this strategy for the preparation of (3-(l,6) and P,(3-(l,l) hnked C-disaccha-rides, as shown in Scheme 7.7.73 Such C-disaccharides are a class of nonhydrolyzable mimics of disaccharide and potential glycosidase inhibitors in the treatment of metabolic diseases (Scheme 7.7). 

When compared with treating diseases such as thalassaemia, regulation of the level of expression of a corrected ADA gene was believed to be less important for a successful therapeutic outcome. (In most, though not all, metabolic diseases caused by an enzyme deficiency, it appears that expression of even a fraction of normal enzyme levels is sufficient to ameliorate the disease symptoms.)... 

Peroxisomal Diseases Laboratory, Kennedy Krieger Institute, Baltimore/Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam. X-linked adrenoleukody-strophy database. Available on line at www. x-ald. nl/. 

Defects of substrate utilization. Pyruvate dehydrogenase (PDH) deficiency can cause alterations of pyruvate metabolism, as can defects of pyruvate carboxylase, as discussed earlier. Over 200 patients have been described with a disturbance of the PDH complex (PDHC) [15,16]. The clinical picture includes several phenotypes ranging from a severe, devastating metabolic disease in the neonatal period to a benign, recurrent syndrome in older children. There is considerable overlap clinically and biochemically with other disorders (see below). 

Myasthenia gravis Lambert-Eaton syndrome Neuromyotonia (Isaac s syndrome) Intoxications and metabolic diseases... 

W.T. Grant Professor of Pediatrics, University of Pennsylvania School of Medicine Chief, Division of Child Development, Rehabilitation Medicine and Metabolic Disease Children s Hospital of Philadelphia 3605 Civic Center Blvd. 

People of any age who have required regular medical follow-up or hospitalization in the prior year because of chronic metabolic diseases, including diabetes, renal dysfunction, hemoglobinopathies, or immunodeficiency, including medication-induced immunosuppression and human immunodeficiency virus. 

Adults and children with chronic metabolic disease, renal dysfunction, hemoglobinopathies, or immunosuppression (including immunosuppression from drugs or HIV)... 

---