Results 11 to 20 of about 73,449 (206)

Mild hyperphenylalaninemia: to treat or not to treat [PDF]

Journal of Inherited Metabolic Disease, 2011
AbstractOne of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations in blood are >360 μmol/L or >600 μmol/L? This paper reviews the literature on the outcome of
Francjan J. van Spronsen, van Spronsen, Francjan J.   +1 more
openaire   +4 more sources

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   +2 more sources

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia

Children, 2022
Background: Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders.
Maria Cristina Risoleo, Margherita Siciliano, Luigi Vetri, Ilaria Bitetti, Anna Di Sessa, Marco Carotenuto, Francesca Annunziata, Daniela Concolino, Rosa Marotta   +8 more
doaj   +3 more sources

BH4-deficient hyperphenylalaninemia in Russia.

PLoS ONE, 2021
A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications.
Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov   +12 more
doaj   +2 more sources

Cognitive functioning in mild hyperphenylalaninemia

Molecular Genetics and Metabolism Reports, 2015
Background: Hyperphenylalaninemia is a hereditary metabolic disorder that causes elevated blood phenylalanine (Phe). Hyperphenylalaninemias are classified as Phenylketonuria PKU (Phe > 6 mg/dL) or mild hyperphenylalaninemia (mHPA) (Phe 2–6 mg/dL).
Alicia de la Parra, María Ignacia García, Susan E. Waisbren, Verónica Cornejo, Erna Raimann   +4 more
doaj   +2 more sources

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

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

Genotype-phenotype corelation in Serbian patients with hyperphenylalaninemia [PDF]

, 2013
Cilj rada: Ispitivana je korelacija genotipa i fenotipa bolesnika sa hiperfenilalninemijom. Utvrðena je incidencija hiperfenilalninemije u našoj populaciji. Prikazana je učestalost najčešćih mutacija u PAH genu i njihov uticaj na fenotip.
Đorđević, Maja
core   +5 more sources

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness. [PDF]

J Inherit Metab Dis
ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Himmelreich N, Blau N.
europepmc   +2 more sources

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria. [PDF]

MedComm (2020)
In phenylketonuria (PKU), elevated phenylalanine (Phe) increases hepatic fibroblast growth factor 21 (FGF21) and thyroid hormones, enhancing brown adipose tissue (BAT) thermogenesis in patients. Central FGF21 reproduces this phenotype in rodents via reduced hypothalamic AMP‐activated protein kinase (AMPK) activity in the ventromedial nucleus of the ...
López-Rey N, Cabaleiro A, Pata MP, Peyrou M, Estévez-Salguero Á, Fernández-Sanmartín P, Morgan DA, Ferreira V, Sánchez-Pintos P, Folgueira C, Diéguez C, Urisarri A, González-García I, Seoane LM, Rahmouni K, Villarroya F, Couce ML, Nogueiras R, López M.   +18 more
europepmc   +2 more sources

Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice [PDF]

Communications Biology
Serotonin exerts numerous neurological and physiological actions in the brain and in the periphery. It is generated by two different tryptophan hydroxylase enzymes, TPH1 and TPH2, in the periphery and in the brain, respectively, which are members of the ...
Yunqing Cao, Oliver Popp, Niccolo Milani, Fatimunnisa Qadri, Ralf Kühn, Philipp Mertins, Michael Bader, Natalia Alenina   +7 more
doaj   +2 more sources