Results 71 to 80 of about 68,473 (259)

Extensive Dysregulation of Phenylalanine Metabolism Is Associated With Stress Hyperphenylalaninemia and 30‐Day Death in Critically Ill Patients With Acute Decompensated Heart Failure

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Stress hyperphenylalaninemia predicts elevated mortality rates in patients with acute decompensated heart failure (ADHF). This study investigated the metabolic pathways underlying this association and identified a unique metabolic phenotype ...
Wei‐Siang Chen, Min‐Hui Liu, Yi‐Liang Tsou, Huang‐Ping Wu, Hsuan‐Ching Lin, Chung‐Yu Liang, Chao‐Hung Wang   +6 more
doaj   +1 more source

Tetrahydrobiopterin Deficiency: From Phenotype to Genotype

Pteridines, 1993
As a result of the selective screening worldwide during the last 18 years, approximately 250 patients with tetrahydrobiopterin deficiency were discovered.
Blau Nenad, Thöny Beat, Heizmann Claus W., Dhondt Jean-Louis   +3 more
doaj   +1 more source

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo [PDF]

, 2017
The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4), for the treatment of phenylketonuria (PKU) as the first pharmacological chaperone drug initiated a paradigm change in the ...
Danecka, Marta K., Domdey, Katharina A., Eichinger, Anna, Fingerhut, Ralph, Gersting, Søren W., Glossmann, Hartmut, Kemter, Kristina F., Lagler, Florian B., Messing, Dunja D., Muntau, Ania C., Roscher, Adelbert A., Staudigl, Michael, Zsifkovits, Clemens   +12 more
core  

A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi   +2 more
wiley   +1 more source

Effect of Experimental Phenylketonuria on the Bone of Pregnant Mothers and Their Young During Perinatal Life and After Delivered Newborn of Albino Rats [PDF]

, 2015
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Ebied, H. M. (Hala), Elsayyad, H. I. (Hassan), Hefny, H. A. (Hany), Mohallal, M. E. (Mahmoud)   +3 more
core  

Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]

, 2017
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong, Atkin, Benn, Bexhell, Boardman, Bustamante-Aragonés, Current status of newborn screening worldwide, Damle, de Bocanegra, Dudding, Duff, Fidika, Gramer, Götz, Hayeems, Henneman, Hill, Joy, Kelly, Levac, Lindner, Myring, National Institutes of Health Consensus Development Panel, Nennstiel-Ratzel, Oerton, Peters, Pham, Pourfarzam, Read, Sawyer, Schultz, Timmermans, Torkelson, Wilcken, Winner   +34 more
core   +1 more source

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case

Case Reports in Immunology, Volume 2025, Issue 1, 2025.
In recent years, due to the widespread use of advanced molecular diagnostic methods, it has become clear that individuals in particular born from consanguineous marriages may be carriers of different genetic diseases. For this reason, cases where diseases related to inborn errors of immunity (IEI) and metabolism errors are detected in the same patient ...
Ugur Musabak, Tuba Erdogan, Muserref Sule Akcay, Serdar Ceylaner, Alessandro Plebani   +4 more
wiley   +1 more source

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified

International Journal of Neonatal Screening
DNAJC12 deficiency is a recently described inherited metabolic disorder resulting in hyperphenylalaninemia and neurotransmitter deficiency. The effect of treatment on the prevention of neurological manifestations in this newly reported and heterogenous ...
Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani, Cheuk Wing Fung   +11 more
doaj   +1 more source

Use of sapropterin in Mexican patients with yperphenylalaninemia

Acta Pediátrica de México, 2014
Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo, Leticia Belmont-Martínez, Cynthia Fernández-Lainez   +2 more
doaj   +1 more source

Living with phenylketonuria in adulthood: the PKU ATTITUDE study [PDF]

, 2018
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence.
Bensi, Giulia, Biasucci, Giacomo, Burlina, Alberto, Cazzorla, Chiara, Leuzzi, Vincenzo, Manti, Filippo, Musumeci, Antonella, Papadia, Francesco, Polo, Giulia, Stoppioni, Vera, Tummolo, Albina, Vendemiale, Marcella   +11 more
core   +2 more sources