Porphyrias

Question 1

Enzyme Deficiency: Uroporphyrinogen III synthase
CC: BLISTERING Photosensitivity, anemia (due to failed erythropoiesis and hemolysis), reddish teeth, scarring and mutilation over time

Answer 1

Congenital Erythropoietic Porphyria (CEP)

Question 2

Enzyme Deficiency: Ferrochelatase
CC: Non-blistering photosensitivity , gallstones (hydrophobic porphyrin deposition in bile), childhood onset

Answer 2

Erythropoietic Protoporphyria (EPP)

Question 3

Enzyme Deficiency: Porphobilinogen deaminase
CC: Abdominal pain, tachycardia, peripheral neuropathy, motor weakness (starting in upper extremities), psychiatric symptoms, port-wine-colored urine

Answer 3

Acute Intermittent Porphyria (AIP)

Question 4

Enzyme Deficiency: Uroporphyrinogen decarboxylase
CC: Chronic blistering skin lesions (photosensitivity), elevated hepatic transaminases, onycholysis, delayed reactions to sunlight, association with Hepatitis C and alcohol use

Answer 4

Porphyria Cutanea Tarda (PCT)