Metabolic disorders- Carbohydrate metabolism

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S.N. Process/Pathway affected Disease Major Manifestation 1) Digestion Lactose intolerance Sucrase/Isomaltase deficiency Inability to digest dairy products, bloating, pain- abdomen, diarrhea or constipation, etc. 2) Absorption (SGLT-1or SGLT-2 deficiency) Glucose/Galactose malabsorption   Impaired dietary glucose/galactose absorption (SGLT-1), or Renal glycosuria (SGLT-2) 3) Glycolysis Hexokinase or Pyruvate kinase deficiency (   Hemolytic anemia 4) PDH Complex […]

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Biologically important peptides

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A 56-year-old man with long-standing poorly controlled diabetes mellitus visits his primary care physician for a follow up after recent hospitalization. The patient experienced an episode of acute renal failure while in the hospital and his creatinine level rose to 4 mg/dl. Creatinine, a marker of renal function is produced from which of the following

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Alpha1-Antitrypsin deficiency- a case study

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Case details A severe form of obstructive lung disease, starting with dyspnea and leading progressively toward emphysema, was found in several members of the family. One brother had died earlier of lung disease. Blood plasma from his surviving brother and sister showed an abnormally low concentration of α1-Antitrypsin (5.5 μm, normal is 20–48 μm), the

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