Results 51 to 60 of about 69,044 (178)

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

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   +1 more source

No QTcF Prolongation with Sepiapterin: Results From a Thorough QT Study in Healthy Subjects at Therapeutic and Supratherapeutic Doses

The Journal of Clinical Pharmacology, Volume 66, Issue 1, January 2026.
Abstract Sepiapterin and its major metabolite 6R‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4) bind to distinct variants of phenylalanine hydroxylase (PAH), which converts excess phenylalanine to tyrosine, thereby stabilizing, enhancing, and prolonging PAH activity.
Lan Gao, Hongqi Xue, Borje Darpo, Kimberly Ingalls, Diksha Kaushik, Neil Smith, Ronald Kong, Lee Golden   +7 more
wiley   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +1 more source

PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity [PDF]

Journal of Medical Biochemistry, 2014
Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of ...
Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.   +4 more
doaj  

Successful Management of Two Consecutive Pregnancies With Maternal–Fetal Phenylketonuria: Lessons From Clinical Practice

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders. Treatment involves a Phe‐restricted diet, amino acid supplements, and for a subset of patients, a tetrahydrobiopterin (BH4 ...
Per Lundkvist, Karin Blom Malmberg, Linda Lindström, Andreas Kindmark   +3 more
wiley   +1 more source

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

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   +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

SUFU Loss‐of‐Function Heterozygous Variants Cause a Distinct Neurodevelopmental Delay With Simultaneous Effects on Brain Size

Human Mutation, Volume 2026, Issue 1, 2026.
Heterozygous loss‐of‐function variants in SUFU are associated with Gorlin syndrome (MIM:620343) and tumor predisposition, while biallelic missense variants underlie recessive Joubert syndrome (JS; MIM:617757). Interestingly, emerging evidence suggests that SUFU haploinsufficiency also contributes to neurodevelopmental disorders (NDDs).
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Lorena Travaglini, Mathilde Nizon, Hilde Van Esch, Julie Vogt, Nick Drinkall, Joanna Jarvis, Emanuele Agolini, Mario Bengala, Alessandro Mussa, Antonio Novelli, Giuseppe Novelli, Stuart Scott   +14 more
wiley   +1 more source