Porphyrias

Question 1

Ferrochelatase and ALA dehydratase

Protoporphyrin and ALA accumulate in urine

Answer 1

Lead poisoning

Question 2

Ferrochelatase deficiency
Protoporphyrin accumulates in erythrocytes, bone marrow, and plasma
Erythroid

Answer 2

Erythropoietic protoporphyria

Question 3

Hydroxymethylbilane synthase deficiency
Porphobilinogen and d-amino-levulinic acid accumulate in urine
Urine darkens on exposure to light and air
Hepatic

Answer 3

Acute intermittent porphyria

Question 4

Protoporphyrinogen oxidase deficiency
Accumulation of PPIX and other intermediates in the urine
Photosensitive patients
Hepatic

Answer 4

Variegate porphyria

Question 5

Coproporphyrinogen oxidase deficiency
CPPIII and other intermediates in the urine
Photosensitive patients
Hepatic

Answer 5

Hereditary coproporphyria

Question 6

Uroporphyrinogen decarboxylase deficiency
Uroporphyrin accumulates in the urine
Most common porphyria
Photosensitive patients
Hepatic and erythroid

Answer 6

Porphyria cutanea tarda

Question 7

Uroporphyrinogen III synthase deficiency
UPI and CPI accumulate in urine
Photosensitive patients
Erythroid

Answer 7

Congenital erythropoietic porphyria