Acute Intermittent porphyria (AIP) is a rare genetic disease which is caused by mutations in the porphobilinogen deaminase
(PBGD) gene; one of the enzymes of the heme biosynthesis pathway.
Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, and results from partial deficiency of porphobilinogen deaminase
, the third enzyme of the haem synthetic pathway [Badminton and Elder, 2002].
Acute intermittent porphyria is a rare genetic disease where mutations in the porphobilinogen deaminase
(PBGD) gene, results in insufficient activity of a protein necessary for heme synthesis.
The serum porphobilinogen and hepatic porphobilinogen deaminase
in normal and porphyric individuals.
Some consistency in enzyme nomenclature is called for; uroporphyrinogen I synthase and porphobilinogen deaminase
should be confined to the dust bin of history--hydroxymethyl bilane synthase is the correct and internationally preferred term.
Acute intermittent porphyria (AIP)  is a metabolic disease that results from the partial deficiency of porphobilinogen deaminase
(PBGD; also known as hydroxymethylbilane synthase; EC 4.
The porphobilinogen deaminase
(PBGD) housekeeping gene was used as endogenous control to compensate for different degrees of inhibition during reverse transcription and PCR (6).
ABCA1-specific PCR primers and hybridization probes capable of fluorescence resonance energy transfer were used to generate and monitor 205-bp ABCA1, 264-bp porphobilinogen deaminase
(PBGD) fragments, and 262-bp glyceraldehyde 3-phosphate dehydrogenase (GAPDH) fragments, respectively (Table 1).
Detection of four novel mutations in the porphobilinogen deaminase
gene in French Caucasian patients with acute intermittent porphyria.
(PBGD) gene expression was assessed by RT-PCR as a housekeeping gene on all samples to verify mRNA integrity (27).
High prevalence of a point mutation in the porphobilinogen deaminase
gene in Dutch patients with acute intermittent porphyria.
Except for the use of erythrocyte porphobilinogen deaminase
activity to confirm the diagnosis of acute intermittent porphyria (AIP),  enzyme assays have little to offer in the routine investigation of these diseases.