Per protocol, CHE subjects in the study had a defined mutation in the porphobilinogen deaminase
gene and elevated urinary levels of ALA and PBG, but did not have a recent history of porphyria attacks or disease activity.
Acute intermittent porphyria (AIP) is a rare metabolic disorder that is the most common of the acute porphyries and is characterized by enzymatic defect of porphobilinogen deaminase
with depot and increased excretion of porphyrins and their precursors (1).
Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase
by protoporphyrinogen and coproporphyrinogen.
D-aminolevulinate dehydratase (ALAD), porphobilinogen deaminase
(PBGD) and magnesium chelatase (Mg-chelatase) were the key enzymes reported in the chlorophyll biosynthesis in higher plants.
 During an acute attack, haem precursors accumulate in front of the deficient enzyme, which in AIP is porphobilinogen deaminase
and in VP protoporphyrinogen oxidase.
Keywords: Acute intermittent porphyria, Porphobilinogen deaminase
, Gene mutation, Menstruation.
Mutation hotspots in the human porphobilinogen deaminase
gene: Recurrent mutations G111R and R173Q occurring at CpG motifs.
(2) The most common of these is acute intermittent porphyria (AIP), which is dominantly inherited and characterized by the half-normal activity of porphobilinogen deaminase
(PBGD) (EC 126.96.36.199).
It is a metabolic error that affects more women than men and is inherited in autosomal dominant manner, causing a partial deficit in the porphobilinogen deaminase
Acute intermittent porphyria (AIP) is a hereditary hepatic porphyria inherited as autosomal dominant with low penetrance resulting from mutation in the gene encoding the enzyme, porphobilinogen deaminase
(PBG-D) [hydroxymethylbilane synthase, uroporphyrinogen I synthase].
Background: Acute Intermittent Porphyria (AIP) is a rare autosomal dominant metabolic disorder resulting from partial deficiency of porphobilinogen deaminase
, the third enzyme of the haem synthetic pathway.
d- aminolevulinate dehydratase (ALAD), porphobilinogen deaminase
(PBGD) and magnesium chelatase (Mg- chelatase) were the key enzymes reported in the chlorophyll biosynthesis in higher plants.