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Write about Porphyrias here. • Group of rare inborn errors of metabolism • Abnormalities of enzymes involved in the biosynthesis of haem, resulting in the overproduction of the intermediate compounds called 'porphyrins'. • Extreme heterogeneity • Chief limiting step in haem production is �-ALA synthetase, with an increase in the is enzyme resulting in an overproduction of porphyrins. • Haem provides a negative feedback mechanism for the enzyme • The excess porphyrins are produced in either the liver (Hepatic Porphyria) or in the bone marrow (Erythropoietic Porphyria) • Two main types - acute and nonacute |
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