Question

Hydroxymethylbilane is converted to uroporphyrinogen III via the enzyme uroporphyrinogen III synthase (heme synthesis). Defects in this enzyme cause which condition?

1) Congenital erythropoietic porphyria
2) Hemochromatosis
3) Sickle cell anemia
4) Thalassemia

Answer 1

Defects in the enzyme uroporphyrinogen III synthase can cause congenital erythropoietic porphyria (CEP).

Step-by-step explanation:

Congenital erythropoietic porphyria

Defects in the enzyme uroporphyrinogen III synthase can cause congenital erythropoietic porphyria (CEP).

CEP is a rare genetic disorder characterized by impaired heme synthesis, leading to the accumulation of porphyrins in the body. This can result in various symptoms, including photosensitivity, blistering of the skin, and red-colored urine.

Therefore, the correct answer is 1) Congenital erythropoietic porphyria.