PANDA: PKU Amino Acid Evaluation
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)
Links
- Source: http://clinicaltrials.gov/show/NCT04086511
- ClinicalTrials.gov processed this data on September 16, 2019
Published on BioPortfolio: 2019-09-17T02:47:36-0400
Clinical Trials
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.
This study will evaluate SYNB1618 (investigational product) in healthy volunteers (HV) and subjects diagnosed with phenylketonuria (PKU) for the possible treatment of PKU. Phenylketonuria ...
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
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...
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
Phenylketonuria, Maternal
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)
Phenylketonurias
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).
Dihydropteridine Reductase
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.
Phenylalanine Hydroxylase
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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