MS9 Porphyrias

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Author:
jknell
ID:
207529
Filename:
MS9 Porphyrias
Updated:
2013-03-15 18:38:01
Tags:
Multisystem disorders
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Description:
Porphyrias
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    • Porphyrin synthesis:
    • A) Pyrrole ring
    • B) Porphin ring
    • C) protoporphyrin IX
    • Heme = protoporphyrin IX + Fe
    • Clorophyll is the same structure + Mg
  1. Heme biosynthesis
    • Heme is made in every cell
    • 85% is made in erythroid cells
    • There are 8 enzymatic reactions in the process
    • Mutations in the enzymes that control these reactions lead to the disorders known as porphyria
    • Porphyrias
    • -Green: Hepatic porphyrias
    • -Red: Erythropoietic porphyrias
    • δALA - δ-aminolevulinic acid
    • First step of heme synthesis: Rate limiting
    • Two forms of ALA Synthase (ALAS)
    • -ALAS2: erythroid-specific form
    • -ALAS1: ubiquitous form responsible for the production of heme in the liver

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