Results 31 to 40 of about 68,473 (259)

A Report on the Incidence of phenylketonuria [PDF]

Acta Medica Iranica, 1982
To f i nd the. inc idence of Phenylketonuria(PKU) i n Teheran a study was conduc ted i n di ffe rent hospitals of Te heran f or a period of Six Years (1974-1980) by screening 8633 neona t e s wit h Guthrie-test . (4) .
M. Kabiri
doaj   +1 more source

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

BMC Medical Genetics, 2017
Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4 ...
Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk   +5 more
doaj   +1 more source

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

Metabolites, 2020
Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy.
Damiana Pieragostino, Ilaria Cicalini, Silvia Di Michele, Paola Fusilli, Giovanna Cotugno, Rossella Ferrante, Ines Bucci, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi   +10 more
doaj   +1 more source

Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study [PDF]

, 2016
BACKGROUND: It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland.
AB Burlina, C Landvogt, CM McKean, D Vliet van, D Vliet van, F Güttler, FJ Spronsen van, HC Curtius, HE Carlson, HE Carlson, J Denecke, J Weglage, KD Wang, KH Schulpis, M Spada, M Velema, MJ Groot de, N Ben-Jonathan, N Blau, W Krause   +19 more
core   +2 more sources

Recommendations on phenylketonuria in Turkey

The Turkish Journal of Pediatrics, 2022
Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri   +4 more
doaj   +1 more source

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

Elektronički Zbornik Radova Veleučilišta u Šibeniku, 2022
Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
doaj   +1 more source

The effect of phenylalanine restricted diet on anthropometric parameters in classical phenylketonuria patients

Journal of Behçet Uz Children's Hospital, 2019
INTRODUCTION: Classical phenylketonuria (PKU) is an inherited disorder of amino acid metabolism disorder. The basis of treatment is a life-long phenylalanine restricted diet.
Engin Köse, Hatice Öztürk, Baransel Özdemir, Recep Eren Özçelik, Lütfiye Çiftçi, Kübra Çetin, Fatih Öztürk, Nur Arslan   +7 more
doaj   +1 more source

A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection

International Journal of Neonatal Screening
DNAJC12-deficient hyperphenylalaninemia is a recently described inborn error of metabolism associated with hyperphenylalaninemia, neurotransmitter deficiency, and developmental delay caused by biallelic pathogenic variants of the DNAJC12 gene.
Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh   +3 more
doaj   +1 more source

Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A cross-sectional study.

PLoS ONE, 2022
Patients with phenylketonuria (PKU), an inborn error of phenylalanine metabolism, require consistent treatment to avoid the brain toxicity caused by hyperphenylalaninemia. The treatment consists of life-long use of a low-phenylalanine diet, which aims at
Miroslaw Bik-Multanowski, Bozena Didycz, Kinga Bik-Multanowska   +2 more
doaj   +2 more sources

First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia. [PDF]

Pediatr Int
Pediatrics International, Volume 67, Issue 1, January/December 2025.
Ogawa E, Takano C, Arai-Ichinoi N, Hamazaki T, Sasai H, Morioka I, Ishige M.   +6 more
europepmc   +2 more sources