PORPHYRIAS

Dr. Vijay Marakala, MBBS, MD.

Assistant professor BIOCHEMISTRY SIMS & RC

PORPHYRIA - Definition

Porphyrias are diseases of heme biosynthesis characterized by increased excretion of porphyrins

or porphyrin precursors in urine and feces.

PORPHYRIA - Classification

Genetic

Acquired

PORPHYRIA - Classification

Erythropoietic porphyrias

• Enzyme deficiency occurs in bone marrow

Hepatic porphyrias

• Enzyme deficiency occurs in liver

PORPHYRIAClinical Features

Acute abdominal pain

Acute psychiatric disturbances

Peripheral neuropathy

Photosensitivity and skin lesions

ACUTE INTERMITTENT PORPHYRIA

Most commonLatent prior to pubertyAbdominal pain, neuropsychiatric symptoms

Photosensitivity Pink coloured urine

CONGENITAL ERYTHROPOIETIC PORPHYRIA

PORPHYRIA CUTANEA TARDA

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