porphobilinogen


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porphobilinogen

[¦pȯr·fō·bə′lin·ə·jən]
(biochemistry)
C10H14O4N2 Dicarboxylic acid derived from pyrrole; a product of hemoglobin breakdown that gives the urine a Burgundy-red color.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Fluctuations in her liver function tests, tachycardia, high blood pressure, and hyponatremia were observed during her stay in the hospital, and her 24-hour urine (total 2900 mL urine) porphobilinogen value was found to be 48.4 mg (reference value <1.6 mg).
ALA = aminolevulinic acid; PBG = porphobilinogen; CoA = coenzyme A; [Pb.sup.++] = lead.
Chlorophyll biosynthesis in higher plants was carried and accomplished by sequential reactions, D-aminolevulinic acid (ALA), porphobilinogen (PBG), uroporphyrinogen III (Urogen III), coproporphyrinogen III (Coprogen III), protoporphyrin IX (Proto IX), Mg-protoporphyrin IX (Mg- Proto IX) and protochlorophyllide (Pchlide) were the major synthetic precursors during these sequential reactions (Ilag et al., 1994; Nagata et al., 2005; Shi et al., 2009).
[4] During an acute attack, haem precursors accumulate in front of the deficient enzyme, which in AIP is porphobilinogen deaminase and in VP protoporphyrinogen oxidase.
Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem.1 Acute intermittent porphyria (AIP), an autosomal dominant disorder, is a common type of neurologic porphyria in which mutation of the porphobilinogen deaminase (PBGD) gene plays an important role.2,3 The clinical manifestations of AIP include severe abdominal pain, nausea, vomiting and psychiatric symptoms, but not skin lesions.4 Here, we report a case of AIP with mutant allele of the PBGD gene.
Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs.
* delta-aminolevulinic acid and porphobilinogen (acute intermittent porphyria)
(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 4.3.1.8).
Succinylacetone inhibits conversion of Delta-aminolevulinic acid to porphobilinogen in the heme synthesis pathway.
Three patients showed abnormal levels of delta-aminolevulinic acid (ALA) and porphobilinogen in the urine, but only two patients were ultimately proven cases of an unspecified porphyria.