In acute intermittent porphyria which enzyme is deficient?
It is inherited as an autosomal dominant trait. PBG-deaminase (uroporphyrinogen-I-synthase) is deficient. 2. This leads to a secondary increase in the activity of ALA synthase since the end-product inhibition is not effective. The levels of ALA and PBG are elevated in blood and urine. As they are colorless compounds, urine is colorless when voided, but the color is increased on standing due to photo-oxidation of PBG to porphobilin. Hence urine samples for PBG estimation should be freshly collected and transpoed in dark bottles. Porphyrins are not excreted or elevated in blood; so there is no photosensitivity.Ref: DM Vasudevan, Page no: 246
ALA synthase
Uroporphyrinogen I synthase
Uroporphyrinogen II synthase
Uroporphyrinogen III synthase
Enzymes