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PANDA: PKU Amino Acid Evaluation

2019-09-17 02:47:36 | BioPortfolio

Summary

Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.

Description

The exploratory study's main objective is to measure blood amino acid levels and to gain quantitative insights in children with PKU on a protein substitute with respect to evaluation of nutritional intake.

Study Design

Conditions

Phenylketonuria (PKU)

Location

Dr. P. Verloo
Gent
Belgium

Status

Not yet recruiting

Source

Nutricia Research

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-09-17T02:47:36-0400

Clinical Trials [43 Associated Clinical Trials listed on BioPortfolio]

Behavioral Effects of Kuvan in Children With Mild Phenylketonuria

The purpose of this study is to determine whether improvements in behavior occur in children with phenylketonuria (PKU) who are taking Kuvan.

Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria

This study will evaluate SYNB1618 (investigational product) in healthy volunteers (HV) and subjects diagnosed with phenylketonuria (PKU) for the possible treatment of PKU. Phenylketonuria ...

Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)

This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerabilit...

A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults

The 165-901 study is designed to identify the appropriate tools for use in future interventional studies on the neurocognitive effects of pegvaliase on adults with PKU.

Phenylalanine and Its Impact on Cognition

The PICO-Study is a randomized, placebo-controlled, crossover, non-inferiority trial conducted to add evidence to the current European treatment guidelines for adult patients with phenylke...

PubMed Articles [25 Associated PubMed Articles listed on BioPortfolio]

Metabolomics analysis reveals perturbations of cerebrocortical metabolic pathways in the Pah mouse model of phenylketonuria.

Phenylketonuria (PKU), which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, is one of the most common inherited diseases of amino acid metabolism. Phenylketonuria is characterized...

The Association of Therapy Adherence and Thyroid Function in Adult Patients with Phenylketonuria.

The standard, lifelong therapy of phenylketonuria (PKU) is a natural protein-restricted diet complemented with phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutr...

Overweight in classical phenylketonuria children: A retrospective cohort study.

This cohort study aimed to determine the frequency of overweight and obesity in classical phenylketonuria children and to identify the possible influence of metabolic control on the BMI of the studied...

Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study.

Phenylketonuria (PKU) is a metabolic disease. It is manifested by a complete or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased concentrations of Phe in the blood a...

Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province.

To delineate the variants spectrum of phenytalanine hydroxylase (PAH) gene among 78 unrelated patients with phenylketonuria (PKU) from Jiangxi province.

Medical and Biotech [MESH] Definitions

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

An enzyme that catalyzes the reduction of 6,7-dihydropteridine to 5,6,7,8-tetrahydropteridine in the presence of NADP+. Defects in the enzyme are a cause of PHENYLKETONURIA II. Formerly listed as EC 1.6.99.7.

An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.

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