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...
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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...
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Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities. The National PKU Alliance (NPKUA) conducted a survey of its membership to assess current health status and interest in new treatments for...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01391-y