Results 11 to 20 of about 68,473 (259)

Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019

International Journal of Medical Biochemistry, 2022
INTRODUCTION: To evaluate the 2-year follow-up of hyperphenylalaninemia (HPA) patients born in 2019. METHODS: Growth, neuromotor development, and vitamin levels of 61 two-year-old babies followed up with the diagnosis of HPA in 2019 were evaluated ...
Pelin Savli, Melike Ersoy, Abdullah Emre Güner, Ibrahim Taş   +3 more
doaj   +2 more sources

HYPERPHENYLALANINEMIA: CASE REPORT [PDF]

Ambiance in Life International Scientific Journal in Medicine of Southern Caucasus, 2021
Background: Hyperphenylalaninemia (HPA) is a group of autosomal recessive diseases caused by impaired metabolism of the essential amino acid phenylalanine (Phe), which enters the human body with protein food [1]. HFA combines several genetically heterogeneous forms of phenylalanine metabolism disorders similar in clinical features: classical ...
Gulmira Zharmakhanova Gulmira Zharmakhanova, Victoria Kononetc Victoria Kononetc, Lyazzat Syrlybayeva Lyazzat Syrlybayeva, Eleonora Nurbaulina Eleonora Nurbaulina, Lyazzat Baikadamova Lyazzat Baikadamova   +4 more
openaire   +2 more sources

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy [PDF]

Endocrinology, Diabetes & Metabolism, 2023
Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali   +12 more
doaj   +2 more sources

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia [PDF]

Pediatric Research, 1991
Some cases of primary hyperphenylalaninemia are not caused by the lack of phenylalanine hydroxylase, but by the lack of its cofactor tetrahydrobiopterin. These patients are not clinically responsive to a phenylalanine-restricted diet, but need specific substitution therapy. Thus, it became necessary to examine all newborns screened as positive with the
PONZONE, Alberto, GUARDAMAGNA, Ornella, Ferraris S, FERRERO, Giovanni Battista, DIANZANI, Irma, Cotton R.G.   +5 more
openaire   +4 more sources

Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study [PDF]

Orphanet Journal of Rare Diseases, 2023
Background The risk of neuropsychological disorders appears to be high in hyperphenylalaninemia (HPA). The hypothesis of executive function impairment is prominent in accounting for the neuropsychological phenotype in phenylketonuria (PKU) and is ...
Laetitia Paermentier, Aline Cano, Brigitte Chabrol, Arnaud Roy   +3 more
doaj   +2 more sources

The value of simultaneous determination of blood large neutral amino acids and tetrahydrobiopterin metabolites in the diagnosis of atypical hyperphenylalaninemia [PDF]

Egyptian Liver Journal
Tetrahydrobiopterin deficiency in newborns with atypical hyperphenylalaninemia requires rapid and accurate diagnosis and the ability to distinguish it from the classical type to prevent early irreversible neurological damage.
Nadia Salama, Gamalte Elgedawy, Radwa Gamal, Osama Zaki, Ashraf Khalil, Manar Obada   +5 more
doaj   +2 more sources

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study. [PDF]

JIMD Rep
ABSTRACT Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH deficiency (≤ 12 years) treated at one of 12 pediatric metabolic centres across Canada.
Yuskiv N, Saad A, Potter BK, Stockler-Ipsiroglu S, Mitchell JJ, Hawken S, Tingley K, Pugliese M, Lamoureux M, Chow AJ, Kronick JB, Wilson K, Feigenbaum A, Goobie S, Inbar-Feigenberg M, Little J, Mercimek-Andrews S, Pender A, Prasad C, Schulze A, Trakadis Y, Ho G, Vallance H, Austin V, Vandersteen A, Yu AC, Rockman-Greenberg C, Mhanni AA, Chakraborty P.   +28 more
europepmc   +2 more sources

A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia

Frontiers in Neuroscience, 2021
We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism.
Colm J. McGinnity, Daniela A. Riaño Barros, Eric Guedj, Nadine Girard, Christopher Symeon, Christopher Symeon, Helen Walker, Helen Walker, Sally F. Barrington, Mary Summers, Mervi Pitkanen, Mervi Pitkanen, Yusof Rahman   +12 more
doaj   +1 more source

Tetrahydrobiopterin, responsive, hyperphenylalaninemia without biopterin defiCIency [PDF]

Pteridines, 2000
Shintaku Haruo, Asada Minoru, Sawada Yoshitomo, Yamano Tsunekazu   +3 more
doaj   +2 more sources

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

JIMD Reports, 2021
Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol.
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny   +8 more
doaj   +1 more source