Question

Porphobilinogen is converted to hydroxymethylbilane via the enzyme porphobilinogen deaminase (heme synthesis). Deficiency of this enzyme causes which condition?

1) Acute intermittent porphyria
2) Hemochromatosis
3) Sideroblastic anemia
4) Porphyria cutanea tarda

Answer 1

A deficiency in the enzyme porphobilinogen deaminase during the heme synthesis pathway causes acute intermittent porphyria, a type of hepatic porphyria with neurological and gastrointestinal symptoms.

Step-by-step explanation:

A deficiency of the enzyme porphobilinogen deaminase, which is involved in the conversion of porphobilinogen to hydroxymethylbilane during the heme synthesis pathway, causes a condition known as acute intermittent porphyria.

Porphyrias represent a group of disorders that typically involve excess excretion of porphyrins or their precursors, as a result of abnormalities in the porphyrin synthesis process.

Acute intermittent porphyria is a type of hepatic porphyria that is inherited and can lead to various neurological and gastrointestinal symptoms. The biosynthesis of heme, which is critical for the production of hemoglobin and for oxygen transport in the blood, can be disrupted by deficiencies in enzymes along this synthetic pathway, leading to a range of clinical manifestations.