https://www.myemnotes.com/ 2026-04-11T01:29:35+00:00 https://www.myemnotes.com/ https://www.myemnotes.com/lib/exe/fetch.php?media=logo.png text/html 2023-04-25T12:16:10+00:00 Anonymous (anonymous@undisclosed.example.com) https://www.myemnotes.com/doku.php?id=wiki:metabolic:gitelmanssyndrome&rev=1682424970&do=diff Gitelman Syndrome AKA - familial hypokalemia-hypomagnesemia, hypomagnesemia-hypokalemia with hypocalciuria mostly mutations in the SLC12A3 gene (responsible for the thiazide-sensitive NaCl cotransporter), autosomal recessive and considered a milder variant of Bartter syndrome text/html 2023-04-25T12:16:10+00:00 Anonymous (anonymous@undisclosed.example.com) https://www.myemnotes.com/doku.php?id=wiki:metabolic:porphyria&rev=1682424970&do=diff Porphyrias * a set of genetic (AD,AR and X-linked versions) metabolic disorders, each a defect in one of the 8 enzymes in the heme biosynthetic pathway resulting in the accumulation of precursors of heme. Porphyrins are the major precursors. * can be classified as hepatic or erythropoietic based on whether the heme precursors 1st accumulate in the liver or the bone marrow and red blood cells text/html 2023-04-25T12:16:10+00:00 Anonymous (anonymous@undisclosed.example.com) https://www.myemnotes.com/doku.php?id=wiki:metabolic:rhabdomyolysis&rev=1682424970&do=diff Rhabdomyolysis * major trauma patients, crush injuries and 'long lie' patients who have not moved for some time possibly due to intercurrent medical condition and drug and alcohol abuse especially when associated with prolonged seizure activity. Consider other medical causes such as viral myositis, connective tissue disorders and drug reactions (eg malignant hyperthermia)