Results 11 to 20 of about 256,046 (232)

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.
Ghosh R, León-Ruiz M, Singh Sardar S, Naga D, Roy D, Ghosh T, Dubey S, Benito-León J.   +7 more
europepmc   +7 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, Zhu J, Trépo E, Bayard Q, Amaddeo G, GENTHEP Consortium, Blanc JF, Calderaro J, Ma X, Zucman-Rossi J, Letouzé E.   +10 more
europepmc   +8 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.
Li S, Lei JJ, Dong BX, Ren Y, Yang J.
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 Neuropathologica Communications, 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.
Stefanie Berger, Miranda Stattmann, Ana Cicvaric, Francisco J. Monje, Pierluca Coiro, Matej Hotka, Gerda Ricken, Johannes Hainfellner, Susanne Greber-Platzer, Makiko Yasuda, Robert J. Desnick, Daniela D. Pollak   +11 more
doaj   +3 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
BACKGROUND 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
Zhou YQ, Wang XQ, Jiang J, Huang SL, Dai ZJ, Kong QQ.   +5 more
europepmc   +3 more sources

Hydroxymethylbilane Synthase Gene Mutation: The Hidden Driver of Abdominal Pain and Neurological Symptoms in Acute Intermittent Porphyria

Journal of Applied Hematology
Mutations 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*, Rahaf Alzahrani, Iman Alhazmi, Alia Abotaleb, Mohammed Alasmari, Abdulrahim Basendwah, Rasha Alsubaie, Muhammad Sohaib Khan, Leena Alnajjar, Sultan Altouri   +9 more
doaj   +3 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   +6 more sources

A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. [PDF]

Medicine (Baltimore), 2018
Rationale: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. Patient concerns: A Chinese female patient with very typical AIP symptoms of severe abdominal pain, seizures, hypertension, and tachycardia ...
Ren Y, Xu LX, Liu YF, Xiang CY, Gao F, Wang Y, Bai T, Yin JH, Zhao YL, Yang J.   +9 more
europepmc   +3 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   +4 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
Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty ...
Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ.   +10 more
europepmc   +4 more sources