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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