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PORPHYRIAS

PORPHYRIAS. DR AMINA TARIQ BIOCHEMISTRY. Group of disorders either inherited or acquired in the heme synthesis. Congenital erythropoietic porphyria - recessive disorder. Rest of them are autosomal dominant. Mutations are heterogenous . Clinical Manisfestations.

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PORPHYRIAS

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  1. PORPHYRIAS DR AMINA TARIQ BIOCHEMISTRY

  2. Group of disorders either inherited or acquired in the heme synthesis. • Congenital erythropoieticporphyria- recessive disorder. • Rest of them are autosomal dominant. • Mutations are heterogenous.

  3. Clinical Manisfestations • Erythropeitic and hepatic. • Hepatic are either acute or chronic. • Photosensitivity (skin itches and burns) • These symptoms are due to superoxide radicals, which damage the membranes, and cause the release of lysosomal enzymes.

  4. Acute hepatic porphyrias • Acute intermittent porphyria • Hereditary coporphyria • Varigateporphyria Symptoms: • Gastrointestinal • Neurologic/Psychiatric • Cardiovascular

  5. Precipitation of symptoms by: • Ethanol and barbiturates

  6. Chronic Porphyria • Porphyriacutaneatarda- the most common porphyria. • Chronic disease of the liver and erythropoeitic tissue • Influenced by liver diseases, exposure to sunlight, HIV infections. • Urine appears pink to red in fluorescent light.

  7. Treatment • Symptomatic treatment • Intravenous injection of hemin • Avoidance of sunlight • Ingestion of β- carotene

  8. δ-aminolevulinic acid dehydratase • inhibited by Lead. • ALA accumulates in the urine.

  9. Acute intermittent porphyria Hydroxymethylbilanesynthase • Urine darkens on exposure to light and air. • Patients are not photosensitive.

  10. Congenital Erythropoieticporphyria Uroporphyrinogen III synthase • Patients are photosensitive.

  11. PorphyriaCutaneaTarda Uroporphyrinogendecarboxylase • Most common porphyria. • Patients are photosensitive.

  12. Hereditary Coporphyria CoporphyrinogensOxidase • Acute disease. • Patients are photosensitive.

  13. Variegate Porphyria Protoporphyrinogenoxidase • Acute disease. • Patients are photosensitive.

  14. Erythropoeiticprotoporphyria Ferrochelatase • Protoporphyrinacumulate in the bone marrow, RBcs and plasma. • Patients are photosensitive.

  15. Learning Resources • Lippincott's Biochemistry

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