porphobilinogen synthase

(redirected from ALA dehydratase)

por·pho·bi·lin·o·gen syn·thase

a liver enzyme catalyzing the formation of porphobilinogen and water from two molecules of δ-aminolevulinate, an important reaction in porphyrin biosynthesis; inhibited by lead in cases of lead poisoning; a deficiency of this enzyme results in elevated levels of δ-aminolevulinate and results in neurologic disturbances.

porphobilinogen synthase

References in periodicals archive ?
Two of the acute porphyrias arise from enzyme deficiencies early in the pathway: ALA dehydratase (ALAD) in the very rare ALAD deficiency porphyria and PBG deaminase (PBGD) in AIP.
40) in the same group in 1977 found that ALA dehydratase activity in erythrocytes and liver from patients with HRT was less than 5% and 1% deficient, respectively, compared with controls.
We found deficiencies of ALA dehydratase that correlates with acute intermittent porphyria, both with neurological symptoms.
The enzyme ALA dehydratase, which catalyzes the condensation of 2 molecules of ALA to build PBG, is not a rate-limiting step in the heme biosynthetic pathway; therefore, an inhibitory effect of PBG on the enzyme has been hypothesized (4).
Molecular studies of the gene defect of ALA dehydratase deficiency porphyria: a new point mutation identified in a second German patient.