Correction to: PKU dietary handbook to accompany PKU guidelines
نویسندگان
چکیده
منابع مشابه
Tetrahydrobiopterin and maternal PKU.
A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy. The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies...
متن کاملPhenylketonuria (PKU) – A Success Story
Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed. The cause of PKU is defective function of ...
متن کاملPKU @ CLSciSumm-17: Citation Contextualization
This report gives a brief introduction of our participation in CL-SciSumm 2017 Task 1A. We demonstrate some data analysis and point out the difficulty of this task. Then we report both unsupervised and supervised methods with their performances on 2016 and 2017 testset, from which efficiency of different features can be estimated.
متن کاملPhenylketonuria (Pku): Food Controlled Genetic Disease
Phenylketonuria (PKU) is an autosomal recessive inborn disorder of the metabolism that occurs due to mutations in the gene that codifies enzyme called the phenylalanine hydroxylase (PAH) which is responsible for converting dietary phenylalanine (Phe) into tyrosine (Tyr) in the liver. This results in persistent elevated Phe blood and tissue concentrations, with potential toxic effects, particula...
متن کاملMental illness in mild PKU responds to biopterin.
A 25-year-old woman with mild hyperphenylalaninemia developed disabling depression and panic attacks. The mutations on the phenylalanine hydroxylase gene indicated that she might be responsive to tetrahydrobiopterin therapy. Mutation analyses were performed by the John F. Kennedy Institute in Glostrup, Denmark. The response to tetrahydrobiopterin therapy was impressive at an oral dose of 50 mg ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01486-6