Human Porphyrias

Inherited or acquired disorders of heme biosynthetic pathway

Acute(hepatic porphyrias)- acute neurological attacks-seizures,psychosis,backpain,abdominal pain,acute polyneuropathy)

Erythropoietic porphyrias- Skin problems,lightsensitive blistering rash and increased hair growth.

Variegate porphyria-Both neurological and skin features.

Porphyria’s -Disease of 5P’s Pain abdomen,Psychological disturbances,Polyneuropathy,Purple urine,Precipitated by pills.

Hepatic Porphyrias

Acute Intermittent Porphyria-Porphobilinogen Deaminase deficiency.

Porphyria cutanea Tarda-Uroporphyrinogen decarboxylase.

Hereditary Coproporphyria-Coproporphyrinogen oxidase.

Erythropoietic porphyrias

Congenital erythropoietic porphyria(Gunther’s d/s)-Uroporphyrinogen cosynthase

Erythropoietic protoporphyria-Ferrochelatase

Mixed

Variegate porphyria-Protoporphyrinogen oxidase.

Important point:All porphyria’s are AD except Gunther’s d/s which is AR.

MC porphyria-Porphyria Cutanea tarda

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