Results 41 to 50 of about 295,934 (166)

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

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

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

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

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

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

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

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

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

BMC Research Notes, 2018
Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika, T. Kesavan, H. W. Dilanthi, K. L. S. P. K. M. Jayasena, N. D. P. D. Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, D. M. Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake, E. Jasinge, W. Kodikara Arachchi, D. Doheny, R. J. Desnick   +13 more
doaj   +1 more source