Porphyric encephalopathy in a 15-year-old girl: A case report [PDF]
SAGE Open Medical Case ReportsA 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati +6 more
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A simple rapid purification scheme for hydroxymethylbilane synthase from human erythrocytes [PDF]
Biochemical Journal, 1988 Hydroxymethylbilane synthase from human erythrocytes was purified 47,000-fold to greater than 95% homogeneity and 7.5% yield by a simple and rapid procedure using heat treatment (80 degrees C, in the presence of proteinase inhibitors, to convert one of two chromatographically separable forms into the other), DEAE-cellulose and Cibacron Blue F3G-A ...
Elizabeth Smythe, D. Clive Williams
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Characterization of the multiple forms of hydroxymethylbilane synthase from rat spleen [PDF]
Biochemical Journal, 1984 Phenylhydrazine treatment induced hydroxymethylbilane synthase activity (EC 4.3.1.8) in rat spleen, erythrocytes and liver by 40-fold, 7.5-fold and 6-fold respectively. Five multiple forms of the enzyme were resolved by DEAE-cellulose chromatography.
D. Clive Williams
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A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria. [PDF]
Qatar Med J, 2022 Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene ...
Ghosh R +7 more
europepmc +5 more sources
Time-resolved structural studies of hydroxymethylbilane synthase (HMBS) [PDF]
Acta Crystallographica Section A Foundations of Crystallography, 2002 A. Haedener +10 more
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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
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. [PDF]
Hum Mol Genet, 2019 Yasuda M +10 more
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Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. [PDF]
Hum Mol Genet, 2010 Clavero S +5 more
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One ring closer to a closure: the crystal structure of the
The FEBS Journal, 2023 Hydroxymethylbilane synthase (HMBS), involved in haem biosynthesis, catalyses the head‐to‐tail coupling of four porphobilinogens (PBGs) via a dipyrromethane (DPM) cofactor. DPM is composed of two PBGs, and a hexapyrrole is built before the tetrapyrrolic 1‐hydroxymethylbilane product is released.
Helene J. Bustad +6 more
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Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene [PDF]
Genetics in Medicine, 2000 To identify mutations in families with acute intermittent porphyria, an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase.Mutations were identified by direct solid phase sequencing.Two novel missense mutations E80G and T78P and ...
Risha B. Ramdall +7 more
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