porphobilinogen

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porphobilinogen

 [por″fo-bĭ-lin´o-jen]
an intermediary product in the biosynthesis of heme.

por·pho·bi·lin·o·gen (PBG),

(pōr'fō-bī-lin'ō-jen),
A porphyrin precursor of porphyrinogens, porphyrins, and heme; found in the urine in large quantities in cases of acute or congenital porphyria.

porphobilinogen

/por·pho·bi·lin·o·gen/ (por″fo-bĭ-lin´ah-jin) an intermediary product in the biosynthesis of heme; it is produced in excess and excreted in the urine in acute intermittent porphyria.

porphobilinogen

[pôr′fōbilin′əjən]
a chromogen substance that is an intermediate in the biosynthesis of heme and porphyrins. It appears in the urine of people with porphyria, representing an error of metabolism. See also heme, porphyria.

por·pho·bi·lin·o·gen

(PBG) (pōr'fō-bī-lin'ŏ-jen)
A porphyrin precursor of porphyrinogens, porphyrins, and heme; found in the urine in large quantities in cases of acute or congenital porphyria.

porphobilinogen

an intermediary product in the biosynthesis of heme. Not detectable in normal animals.

porphobilinogen deaminase
an enzyme involved in the condensation of porphobilinogen. Now called uroporphyrinogen I synthetase.
References in periodicals archive ?
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.
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) [1] 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.
Porphobilinogen deaminase (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), [1] enzyme assays have little to offer in the routine investigation of these diseases.