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MeSH Review

Metabolic Diseases

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Disease relevance of Metabolic Diseases


Psychiatry related information on Metabolic Diseases


High impact information on Metabolic Diseases


Chemical compound and disease context of Metabolic Diseases


Biological context of Metabolic Diseases


Anatomical context of Metabolic Diseases


Gene context of Metabolic Diseases

  • Mutations in the PCCA (alpha subunit) or PCCB (beta subunit) gene can cause the inherited metabolic disease propionic acidemia (PA), which can be life threatening in the neonatal period [27].
  • Given the conservation of the PI3'K signaling pathway between C. elegans and mammals, the analysis of daf-18 PTEN mutant nematodes should shed light on the role of human PTEN in the etiology of metabolic disease, aging, and cancer [28].
  • Regulation of rIGFBP-1 may play an important role in the modulation of IGF bioactivity in experimental animals with metabolic disease [29].
  • Mutations of the PCCA (alpha subunit) or PCCB (beta subunit) gene cause the inherited metabolic disease, propionic acidemia [30].
  • We conclude that the Q12X mutation in AMPD1 may result in a mild clinical effect; that it is frequent in the Spanish population, and therefore frequently associated with other metabolic diseases; and that the effect of the association of AMPD and PPL deficiencies seems to be neutral [31].

Analytical, diagnostic and therapeutic context of Metabolic Diseases


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  3. Inherited prion diseases and transmission to rodents. Tateishi, J., Kitamoto, T. Brain Pathol. (1995) [Pubmed]
  4. Genetic polymorphisms in peroxisome proliferator-activated receptor delta associated with obesity. Shin, H.D., Park, B.L., Kim, L.H., Jung, H.S., Cho, Y.M., Moon, M.K., Park, Y.J., Lee, H.K., Park, K.S. Diabetes (2004) [Pubmed]
  5. CRIM-positive mutations of acute intermittent porphyria in Finland. Kauppinen, R., Peltonen, L., Pihlaja, H., Mustajoki, P. Hum. Mutat. (1992) [Pubmed]
  6. Reduced neuronal activity and reactivation in Alzheimer's disease. Swaab, D.F., Lucassen, P.J., Salehi, A., Scherder, E.J., van Someren, E.J., Verwer, R.W. Prog. Brain Res. (1998) [Pubmed]
  7. Peroxisome proliferator-activated receptor gamma and metabolic disease. Willson, T.M., Lambert, M.H., Kliewer, S.A. Annu. Rev. Biochem. (2001) [Pubmed]
  8. Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Grompe, M., Lindstedt, S., al-Dhalimy, M., Kennaway, N.G., Papaconstantinou, J., Torres-Ramos, C.A., Ou, C.N., Finegold, M. Nat. Genet. (1995) [Pubmed]
  9. Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases. Eckel, R.H. N. Engl. J. Med. (1989) [Pubmed]
  10. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. Hershfield, M.S., Buckley, R.H., Greenberg, M.L., Melton, A.L., Schiff, R., Hatem, C., Kurtzberg, J., Markert, M.L., Kobayashi, R.H., Kobayashi, A.L. N. Engl. J. Med. (1987) [Pubmed]
  11. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. Wolf, B., Heard, G.S., Jefferson, L.G., Proud, V.K., Nance, W.E., Weissbecker, K.A. N. Engl. J. Med. (1985) [Pubmed]
  12. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. Datta, N.S., Wilson, G.N., Hajra, A.K. N. Engl. J. Med. (1984) [Pubmed]
  13. Metabolic disease. Time for fructose solutions to go. Collins, J. Lancet (1993) [Pubmed]
  14. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Davis, R.E., Miller, S., Herrnstadt, C., Ghosh, S.S., Fahy, E., Shinobu, L.A., Galasko, D., Thal, L.J., Beal, M.F., Howell, N., Parker, W.D. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  15. Successful gene therapy of the Gunn rat by in vivo neonatal hepatic gene transfer using murine oncoretroviral vectors. Bellodi-Privato, M., Aubert, D., Pichard, V., Myara, A., Trivin, F., Ferry, N. Hepatology (2005) [Pubmed]
  16. Inorganic pyrophosphate in metabolic diseases predisposing to calcium pyrophosphate dihydrate crystal deposition. Doherty, M., Chuck, A., Hosking, D., Hamilton, E. Arthritis Rheum. (1991) [Pubmed]
  17. The mouse genome. Guénet, J.L. Genome Res. (2005) [Pubmed]
  18. The Andro Project: physiological and hormonal influences of androstenedione supplementation in men 35 to 65 years old participating in a high-intensity resistance training program. Broeder, C.E., Quindry, J., Brittingham, K., Panton, L., Thomson, J., Appakondu, S., Breuel, K., Byrd, R., Douglas, J., Earnest, C., Mitchell, C., Olson, M., Roy, T., Yarlagadda, C. Arch. Intern. Med. (2000) [Pubmed]
  19. Down-regulation of adipose 11beta-hydroxysteroid dehydrogenase type 1 by high-fat feeding in mice: a potential adaptive mechanism counteracting metabolic disease. Morton, N.M., Ramage, L., Seckl, J.R. Endocrinology (2004) [Pubmed]
  20. Suppression of skeletal muscle lipoprotein lipase activity during physical inactivity: a molecular reason to maintain daily low-intensity activity. Bey, L., Hamilton, M.T. J. Physiol. (Lond.) (2003) [Pubmed]
  21. Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. Petit, F.M., Gajdos, V., Parisot, F., Capel, L., Aboura, A., Lachaux, A., Tachdjian, G., Poüs, C., Labrune, P. Eur. J. Hum. Genet. (2005) [Pubmed]
  22. Role of Endoplasmic Reticulum Stress and c-Jun NH2-Terminal Kinase Pathways in Inflammation and Origin of Obesity and Diabetes. Hotamisligil, G.S. Diabetes (2005) [Pubmed]
  23. Mast cell interactions with the nervous system: relationship to mechanisms of disease. Dines, K.C., Powell, H.C. J. Neuropathol. Exp. Neurol. (1997) [Pubmed]
  24. Developments in ghrelin biology and potential clinical relevance. Smith, R.G., Jiang, H., Sun, Y. Trends Endocrinol. Metab. (2005) [Pubmed]
  25. Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases. Gibson, J.B., Reynolds, R.A., Palmieri, M.J., States, B., Berry, G.T., Segal, S. Pediatr. Res. (1994) [Pubmed]
  26. Xeroradiographic techniques applied to assessment of Achilles tendon in inflammatory or metabolic diseases. Gerster, J.C., Hauser, H., Fallet, G.H. Ann. Rheum. Dis. (1975) [Pubmed]
  27. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. Rodríguez-Pombo, P., Hoenicka, J., Muro, S., Pérez, B., Pérez-Cerdá, C., Richard, E., Desviat, L.R., Ugarte, M. Am. J. Hum. Genet. (1998) [Pubmed]
  28. Regulation of the insulin-like developmental pathway of Caenorhabditis elegans by a homolog of the PTEN tumor suppressor gene. Gil, E.B., Malone Link, E., Liu, L.X., Johnson, C.D., Lees, J.A. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  29. Production of the rat type 1 insulin-like growth factor-binding protein by well differentiated H4EIIC3 hepatoma cells: identification, purification, and N-terminal amino acid analysis. Unterman, T.G., Oehler, D.T., Gotway, M.B., Morris, P.W. Endocrinology (1990) [Pubmed]
  30. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. Lamhonwah, A.M., Leclerc, D., Loyer, M., Clarizio, R., Gravel, R.A. Genomics (1994) [Pubmed]
  31. Molecular analysis of Spanish patients with AMP deaminase deficiency. Rubio, J.C., Martín, M.A., Del Hoyo, P., Bautista, J., Campos, Y., Segura, D., Navarro, C., Ricoy, J.R., Cabello, A., Arenas, J. Muscle Nerve (2000) [Pubmed]
  32. Review article: gene therapy in gastroenterology and hepatology. Forbes, S.J., Hodgson, H.J. Aliment. Pharmacol. Ther. (1997) [Pubmed]
  33. Hematopoietic cell transplantation activity in Europe for inherited metabolic diseases: open issues and future directions. Rovelli, A.M., Steward, C.G. Bone Marrow Transplant. (2005) [Pubmed]
  34. Ascorbic acid: an unstable ninhydrin-positive urinary constituent running with valine in a commonly used screening system. Pollitt, R.J., Sandhu, B. J. Inherit. Metab. Dis. (1980) [Pubmed]
  35. The effects of the alpha-glucosidase inhibitor BAY g 5421 (Acarbose) on postprandial blood glucose, serum insulin, and triglyceride levels: dose-time-response relationships in man. Hillebrand, I., Boehme, K., Frank, G., Fink, H., Berchtold, P. Research in experimental medicine. Zeitschrift für die gesamte experimentelle Medizin einschliesslich experimenteller Chirurgie. (1979) [Pubmed]
  36. Impaired glucose tolerance in the biethnic (Melanesian and Indian) populations of Fiji. Coventry, J., King, H., Zimmet, P., Raper, L.R., Sicree, R. Diabetes Res. (1986) [Pubmed]
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