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The most well-known health issue involving porphobilinogen deaminase is acute intermittent porphyria, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme.
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias. [1] [2] [3]
Porphobilinogen (PBG) is an organic compound that occurs in living organisms as an intermediate in the biosynthesis of porphyrins, which include critical substances like hemoglobin and chlorophyll. [ 1 ]
Hydroxymethylbilane synthase (HMBS) formerly porphobilinogen deaminase (PBGD) Hepatic Autosomal dominant [14] Periodic abdominal pain, peripheral neuropathy, psychiatric disorders, tachycardia [14] 1 in 10,000 [16] –20,000 [16] Congenital erythropoietic porphyria (CEP) uroporphyrinogen synthase (UROS) Erythropoietic Autosomal recessive [14]
HMB is generated from four molecules of porphobilinogen by the enzyme porphobilinogen deaminase: [2] The enzyme uroporphyrinogen III synthase closes the chain to form uroporphyrinogen III : [ 2 ] Uroporphyrinogen III is a porphyrinogen , which is a class of compounds with the hexahydroporphine macrocycle .
Aminolevulinic acid dehydratase (porphobilinogen synthase, or ALA dehydratase, or aminolevulinate dehydratase) is an enzyme (EC 4.2.1.24) that in humans is encoded by the ALAD gene. [ 5 ] [ 6 ] Porphobilinogen synthase (or ALA dehydratase , or aminolevulinate dehydratase ) synthesizes porphobilinogen through the asymmetric condensation of two ...
Scheme illustrating the different steps of the biosynthesis of phycocyanobilin. The biosynthetic pathway of phycocyanobilin begins with 5-Aminolevulinic acid (5-ALA). [2] Two molecules of 5-ALA undergo a condensation reaction catalyzed by Porphobilinogen (PBG) Synthase to yield a molecule of Porphobilinogen (PBG) (not shown). [3]
δ-Aminolevulinic acid (also dALA, δ-ALA, 5ALA or 5-aminolevulinic acid), an endogenous non-proteinogenic amino acid, is the first compound in the porphyrin synthesis pathway, the pathway that leads to heme [3] in mammals, as well as chlorophyll [4] in plants.