Results 31 to 40 of about 2,195 (151)

Mortality in Pedigrees with Acute Intermittent Porphyria

Life, 2022
High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands, Janneke Langendonk   +6 more
doaj   +1 more source

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Genetics and Molecular Biology, 2007
Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.
Georgina Severo Ribeiro, Paulo Eurípedes Marchiori, Mário Hiroyuki Hirata, Ivanise Rebecchi, Adriana Natsue Ozaki, Maria Aparecida Nagai, Mariana Lopes dos Santos, Raimundo Antonio Gomes Oliveira, Orlando Cesar de Oliveira Barretto   +8 more
doaj   +1 more source

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source

Improved biosynthesis of heme in Bacillus subtilis through metabolic engineering assisted fed-batch fermentation

Microbial Cell Factories, 2023
Background Heme is an iron/porphyrin complex compound, widely used in the health care, food, and pharmaceutical industries. It is more advantageous and attractive to develop microbial cell factories to produce heme by fermentation, with lower production ...
Shaomei Yang, Anlong Wang, Jiachang Li, Yunhang Shao, Fengjie Sun, Shucheng Li, Kai Cao, Hongliang Liu, Peng Xiong, Zhengquan Gao   +9 more
doaj   +1 more source

Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography [PDF]

Biochemical Journal, 1983
A high-performance-liquid-chromatographic method is developed for the simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase activity in erythrocytes. Effective separation of uroporphyrin I and III isomers allows the accurate quantification of individual isomers and the total uroporphyrin concentration.
D J, Wright, C K, Lim
openaire   +2 more sources

Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding [PDF]

Biochemical Journal, 1991
The role of conserved arginine residues in hydroxymethylbilane synthase was investigated by replacing these residues in the enzyme from Escherichia coli with leucine residues by using site-directed mutagenesis. The kinetic parameters for these mutant enzymes and studies on the formation of intermediate enzyme-substrate complexes indicate that several ...
Lander, M., Pitt, A. R., Alefounder, P. R., Bardy, D., Abell, C., Battersby, A. R.   +5 more
openaire   +3 more sources

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.
openaire   +2 more sources

Identification of Suitable Reference Genes for Real Time Quantitative Polymerase Chain Reaction Assays on Pectoralis major Muscle in Chicken (Gallus gallus ). [PDF]

PLoS ONE, 2015
Thirteen reference genes were investigated to determine their stability to be used as a housekeeping in gene expression studies in skeletal muscle of chickens.
Carlos S Nascimento, Leandro T Barbosa, Claudson Brito, Roberta P M Fernandes, Renata S Mann, Ana Paula G Pinto, Haniel C Oliveira, Mike V Dodson, Simone E F Guimarães, Marcio S Duarte   +9 more
doaj   +1 more source

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 ...
R B, Ramdall, L, Cunha, K H, Astrin, D R, Katz, K E, Anderson, M, Glucksman, S S, Bottomley, R J, Desnick   +7 more
openaire   +2 more sources

A Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors

Journal of Investigative Medicine High Impact Case Reports, 2022
Acute intermittent porphyria (AIP) is a rare autosomal dominant inherited disease, predominantly seen in female patients, caused by mutations in the hydroxymethylbilane synthase gene.
Andrew J. Ortega DO, Sundar Cherukuri DO, M. Ammar Kalas MD, Brian Lee DO, Jesus Guzman MD, Alejandro Robles MD, Marc J. Zuckerman MD, Ihsan Al-Bayati MD   +7 more
doaj   +1 more source