Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]
Journal of Medical Case ReportsBackground Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht +6 more
doaj +2 more sources
Structure and Mechanism of Action of Hydroxymethylbilane Synthase
CHIMIA, 1999 The structure and mode of action of a vital enzyme involved in the biosynthesis of tetrapyrroles have been studied by using modern crystallographic and pre-steady-state kinetic methods.
Alfons Hädener
doaj +2 more sources
Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma. [PDF]
J Hepatol, 2022 Acute intermittent porphyria (AIP), caused by heterozygous germline mutations of the heme synthesis pathway enzyme HMBS (hydroxymethylbilane synthase), confers a high risk of hepatocellular carcinoma (HCC) development. Yet, the role of HMBS in liver tumorigenesis remains unclear.Herein, we explore HMBS alterations in a large series of 758 HCC cases ...
Molina L +10 more
europepmc +6 more sources
Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown.
Jing Yang +8 more
doaj +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
Plasmodium falciparum hydroxymethylbilane synthase does not house any cosynthase activity within the haem biosynthetic pathway. [PDF]
Microbiology (Reading), 2021 Abstract The production of uroporphyrinogen III, the universal progenitor of macrocyclic, modified tetrapyrroles, is produced from aminolaevulinic acid (ALA) by a conserved pathway involving three enzymes: porphobilinogen synthase (PBGS), hydroxymethylbilane synthase (HmbS) and uroporphyrinogen III synthase (UroS ...
Scott AF +3 more
europepmc +9 more sources
Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study. [PDF]
Eur J NeurolABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Alhammad RM +9 more
europepmc +2 more sources
Acute intermittent porphyria: thein vitroexpression of mutant hydroxymethylbilane synthase
Molecular and Cellular Probes, 1997 Acute intermittent porphyria (AIP) is an inborn error of haem biosynthesis caused by a variety of mutations in the gene coding for hydroxymethylbilane synthase (HMB-S). The entire coding sequence of this gene, from each of three South African AIP patients, was therefore screened for mutations using chemical cleavage mismatch (CCM) analysis and any ...
W G Lanyon, Michael R Moore, J M Connor
exaly +5 more sources
Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report. [PDF]
Clin Case RepClinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Harper P, Törnhage CJ, Sardh E.
europepmc +2 more sources
Real-time PCR of the mammalian hydroxymethylbilane synthase (HMBS) gene for analysis of flea (
Parasites & 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 Chengming +6 more
doaj +2 more sources