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.
deaminase gene in African and Afro-Carribbean ethnic groups: Mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
In distribution E, 13 of the 15 reported results were belowthe lower reference limits for porphobilinogen
deaminase (PBGD), and 2 of 4 for uroporphyrinogen decarboxylase (UROD).
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.
Urine Watson-Schwartz test was positive for porphobilinogen
, Urine PBG level was 24.
Then ALA dehydrates condenses 2 ALAs to porphobilinogen
, which is subsequently converted to protoporphyrin IX.
Quantitative analysis of beta-actin, beta-2-microglobulin and porphobilinogen
deaminase mRNA and their comparison as control transcripts for RT-PCR.
ALAD, an octameric zinc-containing enzyme, catalyzes the condensation of two molecules of 5-aminolevulinic acid (ALA) into one molecule of monopyrrole porphobilinogen
Hastka D, Granick S: The occurrence and determination of delta-amino-levulinic acid and porphobilinogen
Important follow-on work provided the answer to an otherwise puzzling question: why VP and hereditary coproporphyria (HCP) are associated with acute elevations in [delta]-aminolaevulinic acid (ALA) and porphobilinogen
(PBG) and thus the acute attack, whereas porphyria cutanea tarda (PCT) is not, even though the enzymatic defect in PCT occurs more proximally in the haem biosynthetic pathway (Fig.
45) (a) hMAM, human MAM; CEA, carcinoembryonic antigen; GABA, [gamma]- aminobutyric acid; PTPRC, protein tyrosine phosphatase, receptor type, C; CCNE2, cyclin E2; EMP2, epithelial membrane protein 2; MAL2, myelin and lymphocyte 2; PPIC, peptidylprolyl isomerase C; SLC6A8, solute carrier family 6 (neurotransmitter transporter, creatine), member 8; BST, bone marrow stromal cell antigen, MAGE, melanoma-associated antigen; PBGD, porphobilinogen
As a result of this there is an increased accumulation of ALA and decreased formation of porphobilinogen
resulting in the circulation of ALA in blood and excretion in urine (23,24).