منابع مشابه
Micronutrient in hyperphenylalaninemia
The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein supplemented with special low protein foods and a Phe-free amino acid mixture, vitamins and minerals. The obtained data reflects a high percentage of pati...
متن کاملNeurocognitive function in mild hyperphenylalaninemia.
AIM The purpose of this review was to provide an update on cognitive function in individuals with mild hyperphenylalaninemia (mHPA), the most clinically and biochemically benign form of phenylketonuria. METHOD A review was conducted of the existing literature on mHPA. Individuals with mHPA, whose plasma phenylalanine concentration had always remained lower than 360 μmol/L without dietary rest...
متن کاملCognitive functioning in mild hyperphenylalaninemia
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). This study examines the cognitive functioning of early diagnosed children with mHPA compared with early diagnosed and treated children with PKU.Psychomotor devel...
متن کاملManagement of phenylketonuria and hyperphenylalaninemia.
Hyperphenylalaninemia (HPA) is the most frequently inherited disorder of amino acid metabolism (prevalence 1:10,000). In France, a nationwide neonatal screening was organized in 1978 to control its efficacy and patient follow-up. Phenylketonuria (PKU) was diagnosed in 81.6% of screened patients, the remaining affected with either non-PKU HPA (17.2%) or with cofactor deficiency (1.1%). French gu...
متن کاملTetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
BACKGROUND Hyperphenylalaninemia (HPA) may be caused by either a deficiency in phenylalanine-4-hydroxylase or in tetrahydrobiopterin (BH4), the essential cofactor required for the hydroxylation of aromatic amino acids. The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropteridine reductase (DHPR) deficiency (MIM 261630), whi...
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ژورنال
عنوان ژورنال: Data in Brief
سال: 2015
ISSN: 2352-3409
DOI: 10.1016/j.dib.2015.07.026