Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen
in healthy individuals and in patients with acute intermittent porphyria.
Her urine output and colour also improved and was negative for porphobilinogen
synthase activity as an indicator of lead exposure in children.
Allosteric inhibition of human lymphoblast and purified porphobilinogen
deaminase by protoporphyrinogen and coproporphyrinogen: a possible mechanism for the acute attack of variegate porphyria.
The ALAD gene codes for the enzyme [delta]-aminolevulinic acid dehydratase (ALAD), which catalyzes the second step of heme synthesis involving the condensation of two molecules of aminolevulinic acid (ALA) to form porphobilinogen
A suspicion of acute intermittent porphyria (AIP) was confirmed when a markedly elevated porphyrin level was detected in her blood and urine (urinary aminolaevulanic acid 1 521 ([micro]mol/10 mmol creatinine, normal <45; urinary porphobilinogen
1 426 ([micro]mol/10 mmol creatinine, normal <16, with a positive plasma peak at 619 nm).
The affinity of human erythrocyte porphobilinogen
synthase for Zn2+ and Pb2+.
With the exception of [delta]-aminolevulinic acid dehydratase deficiency, which is very rare, acute porphyrias that present with neurovisceral complaints (acute intermittent porphyria, hereditary coproporhyria, and variegate porphyria) are characterized by large increases in urine porphobilinogen
These include aminolevulinate (ALA) dehydratase, porphobilinogen
deaminase (hydroxymethylbilane synthase), and uroporphyrinogen decarboxylase in spleen and ALA synthase in liver.
RNA integrity of the cDNA preparations was tested by real-time PCR amplification of the porphobilinogen
deaminase housekeeping gene.
Concentrations of the target genes, expressed relative to our housekeeping set [low-abundance housekeeping gene hydroxymethylbilane synthase (HMBS, formerly porphobilinogen
deaminase, PBGD), medium-abundance hypoxanthine phosphoribosyltransferase (HPRT), and highabundance [[beta].
Under normal conditions, [delta]-ALA is rapidly dimerized by [delta]-ALA dehydratase (ALAD) to form porphobilinogen