Results 31 to 40 of about 24,432 (224)

Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]

Journal of Medical Biochemistry, 2009
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj  

Prevention of maternal phenylketonuria. Dietary management in the preconception period and during pregnancy

Pediatria i Medycyna Rodzinna, 2018
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska, Kamil Konrad Hozyasz, Maria Nowacka   +2 more
doaj   +1 more source

PKU dietary handbook to accompany PKU guidelines

Orphanet Journal of Rare Diseases, 2020
Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen   +17 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Harnessing Free Radical Scavenging Potential of Caffeic Acid as a Nutraceutical—A Review

Food Safety and Health, EarlyView.
Caffeic acid has emerged as a promising bioactive molecule with multiple pharmacological properties, including antioxidant, antimicrobial, anti‐inflammatory, organ protective properties and metal‐chelating ability. This review emphasizes the dietary sources, structural characteristic, molecular mechanism underlying health promoting effects of caffeic ...
Pavitra Behra, Monika Bhadauria, Satendra Kumar Nirala   +2 more
wiley   +1 more source

Molecular imprinting for neurology: Materials, applications, and limitations

Ibrain, EarlyView.
Molecularly imprinted materials: diagnostic, therapeutic and research applications in neurology. Molecularly imprinted materials offer high specificity and affinity for target molecules in neurological applications. This review highlights their synthesis, characterisation, and use in diagnostics, research and therapeutics.
Xiaohan Ma, Yingqi Ma, Claudia Marino, Alessandro Poma   +3 more
wiley   +1 more source

The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods:
Umit Luleyap, Percin Pazarci, Gamze Comertpay, Halise Neslihan Onenli, Ayfer Pazarbasi, Davut Alptekin, Halil Kasap, Ursula Froster   +7 more
doaj   +1 more source

Elevated levels of plasma phenylalanine in schizophrenia: a guanosine triphosphate cyclohydrolase-1 metabolic pathway abnormality? [PDF]

PLoS ONE, 2014
BACKGROUND: Phenylalanine and tyrosine are precursor amino acids required for the synthesis of dopamine, the main neurotransmitter implicated in the neurobiology of schizophrenia.
Olaoluwa Okusaga, Olesja Muravitskaja, Dietmar Fuchs, Ayesha Ashraf, Sarah Hinman, Ina Giegling, Annette M Hartmann, Bettina Konte, Marion Friedl, Jason Schiffman, Elliot Hong, Gloria Reeves, Maureen Groer, Robert Dantzer, Dan Rujescu, Teodor T Postolache   +15 more
doaj   +1 more source

Host–microbiota interaction drives 5‐hydroxyindole‐3‐acetic acid production to promote linear growth in infant mice

iMetaOmics, EarlyView.
This study discovered that Lactiplantibacillus plantarum Hi188 promoted linear growth in postweaning mice. Transcriptomic analysis, untargeted metabolomics, and in vitro experiments showed that the elevated levels of 5‐hydroxyindole‐3‐acetic acid (5‐HIAA) activated the hepatic aryl hydrocarbon receptor (AhR) and subsequently promoted insulin‐like ...
Yongmei Yang, Jing Yang, Weiyao Zhang, Linghao Zhou, Chenxu Zhu, Xuguang Zhang, Yuejian Mao, Meiling Zhang   +7 more
wiley   +1 more source

Structural features of the regulatory ACT domain of phenylalanine hydroxylase. [PDF]

PLoS ONE, 2013
Phenylalanine hydroxylase (PAH) catalyzes the conversion of L-Phe to L-Tyr. Defects in PAH activity, caused by mutations in the human gene, result in the autosomal recessively inherited disease hyperphenylalaninemia. PAH activity is regulated by multiple
Carla Carluccio, Franca Fraternali, Francesco Salvatore, Arianna Fornili, Adriana Zagari   +4 more
doaj   +1 more source