Results 1 to 10 of about 164,160 (174)

Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function [PDF]

FEBS Open Bio, 2022
Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB).
Helene J Bustad, Juha P Kallio, Aasne Karine Aarsand   +2 more
exaly   +5 more sources

Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene. [PDF]

Front Genet, 2023
Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation.
Ren Y, Wang J, Li S, Lei J, Liu Y, Wang Y, Gao F, Wang J, Yin J, Yang J.   +9 more
europepmc   +4 more sources

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria. [PDF]

Acta Neuropathol Commun, 2020
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme biosynthesis due to a pathogenic mutation in the Hmbs gene, resulting in half-normal activity of hydroxymethylbilane synthase.
Berger S, Stattmann M, Cicvaric A, Monje FJ, Coiro P, Hotka M, Ricken G, Hainfellner J, Greber-Platzer S, Yasuda M, Desnick RJ, Pollak DD.   +11 more
europepmc   +3 more sources

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. [PDF]

J Med Case Rep
Background Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Schacht G, Elbracht M, Minder AE, Stauch T, Stoppe A, Lausberg E, Häusler M.   +6 more
europepmc   +3 more sources

Hydroxymethylbilane synthase (HMBS) gene-based endogenous internal control for avian species. [PDF]

AMB Express, 2020
With PCR becoming one of the most important and widely-used diagnostic tools for infectious diseases of poultry, an urgent need has developed for an endogenous internal control (EIC) that monitors the quality and quantity of poultry DNA in test samples ...
Wang Y, Zhang J, Patrick K, Li M, Gong J, Xu B, Shen Q, Yang Y, Wei L, Zhang Y, Peng D, Ye J, Poudel A, Wang C.   +13 more
europepmc   +5 more sources

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long-Term Outcomes-A Case Study. [PDF]

Clin Case Rep
Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis.
de Araújo Karpejany NRA, do Monte Neto JT, Pereira EM, Carvalho IAF, de Serpa Brandão RMS, da Silva AS, Dos Santos TSB, do Monte SJH.   +7 more
europepmc   +3 more sources

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. [PDF]

Life (Basel), 2023
Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors.
Belosevic A, Minder AE, Gueuning M, van Breemen F, Thun GA, Mattle-Greminger MP, Meyer S, Baumer A, Minder EI, Schneider-Yin X, Barman-Aksözen J.   +10 more
europepmc   +2 more sources

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene. [PDF]

Orphanet J Rare Dis, 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.
Yang J, Han F, Chen Q, Zhu T, Zhao Y, Yu X, Zhu H, Cao J, Li X.   +8 more
europepmc   +2 more sources

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria. [PDF]

Biosci Rep, 2013
The autosomal dominantly inherited disease AIP (acute intermittent porphyria) is caused by mutations in HMBS [hydroxymethylbilane synthase; also known as PBG (porphobilinogen) deaminase], the third enzyme in the haem biosynthesis pathway.
Bustad HJ, Vorland M, Rønneseth E, Sandberg S, Martinez A, Toska K.   +5 more
europepmc   +2 more sources

Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases. [PDF]

Mol Genet Metab Rep
Introduction: A male infant presented at three months of age with generalized ataxia, hypotonia, aspiration of liquids and recurrent generalized seizures. He was treated with levetiracetam and phenobarbital.
Araque M, Ma CD, Jordan A, Faust D, McGuire L, Bonkovsky HL.   +5 more
europepmc   +2 more sources