Guides for tetrahydrobiopterin‐responsive hyperphenylalaninemia
نویسندگان
چکیده
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 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 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...
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which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Although there have been debates and different practice guidelines on the indication of epidural blocks for pain management [1], there remain patients for whom few alternative options are available, including painless delivery and some postoperative patients...
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ژورنال
عنوان ژورنال: Pediatrics International
سال: 2021
ISSN: 1328-8067,1442-200X
DOI: 10.1111/ped.14505