Journal of Applied HematologyMutations in the hydroxymethylbilane synthase (HMBS) gene can lead to a deficiency of the HMBS enzyme, allowing porphyrins to accumulate to toxic levels in the liver and other organs, leading to acute intermittent porphyria (AIP).
Abeer Zakariyah* +9 more
doaj +2 more sources
Blood Cells, Molecules, and Diseases, 2001 Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. So far, more than 170 different mutations responsible for AIP have been identified worldwide in the HMBS gene.
F. Martinez di Montemuros +7 more
openaire +5 more sources
Real-time PCR of the mammalian hydroxymethylbilane synthase (HMBS) gene for analysis of flea (Ctenocephalides felis) feeding patterns on dogs. [PDF]
Parasit Vectors, 2012 Background Precise data on quantitative kinetics of blood feeding of fleas, particularly immediately after contact with the host, are essential for understanding dynamics of flea-borne disease transmission and for evaluating flea control strategies ...
Wang C +6 more
europepmc +2 more sources
The crystal structures of the enzyme hydroxymethylbilane synthase, also known as porphobilinogen deaminase. [PDF]
Acta Crystallogr F Struct Biol Commun, 2021 The enzyme hydroxymethylbilane synthase (HMBS; EC 4.3.1.8), also known as porphobilinogen deaminase, catalyses the stepwise addition of four molecules of porphobilinogen to form the linear tetrapyrrole 1-hydroxymethylbilane. Thirty years of crystal structures are surveyed in this topical review.
Helliwell JR.
europepmc +4 more sources
Purification, characterization, crystallisation and X‐ray analysis of selenomethionine‐labelled hydroxymethylbilane synthase from Escherichia coli [PDF]
European Journal of Biochemistry, 1993 Hydroxymethylbilane synthase (HMBS) catalyses the conversion of porphobilinogen into hydroxymethylbilane, a linear tetrapyrrolic intermediate in the biosynthesis of haems, chlorophylls, vitamin B12 and related macrocyles. In the course of an investigation of the crystal structure of this enzyme, we intended to follow a new strategy to obtain the X‐ray ...
Hadener, Alfons +9 more
openaire +6 more sources
HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review. [PDF]
Medicine (Baltimore), 2023 Background: Acute intermittent porphyria (AIP) is caused by a partial deficiency of hydroxymethylbilane synthase and affects heme biosynthesis. Mutations in the HMBS gene result in HMBS deficiency. AIP is a rare disease, and there been insufficient studies on it.
Li S, Lei JJ, Dong BX, Ren Y, Yang J.
europepmc +3 more sources
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. [PDF]
Proc Natl Acad Sci U S A, 2018 Significance Human hydroxymethylbilane synthase (hHMBS) is a monomeric enzyme that catalyzes the stepwise head-to-tail condensation of four porphobilinogen (PBG) molecules to form the linear tetrapyrrole 1-hydroxymethylbilane (HMB).
Bung N +8 more
europepmc +2 more sources
Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report. [PDF]
World J Clin Cases, 2022 Acute intermittent porphyria (AIP) is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase (HMBS) gene. This study aimed to explore the clinical manifestations of a patient with AIP, to identify a novel HMBS gene mutation in the proband and some of her family members, and to confirm the ...
Zhou YQ +5 more
europepmc +3 more sources
Influência de polimorfismos genéticos sobre a atividade da enzima hidroximetilbilano sintase Influence of genetic polymorphisms on hydroxymethylbilane synthase enzyme activity [PDF]
Revista Brasileira de Hematologia e Hemoterapia, 2009 A porfiria aguda intermitente, uma doença autossômica dominante, resulta da redução da atividade de uma enzima que participa da via biossintética do heme, a hidroximetilbilano sintase.
Ana D. G. Gonzaga
doaj +2 more sources
PLoS ONE, 2021 BackgroundThe COVID-19 pandemic illuminated the benefits of telemedicine. Self-collected specimens are a promising alternative to clinician-collected specimens when in-person testing is not feasible.
Gabriella Vavala +17 more
doaj +1 more source