Effect of large neutral amino acids on maternal phenylketonuria offspring
نویسندگان
چکیده
Phenylketonuria (PKU) is an inborn error in the metabolism of the amino acid phenylalanine (Phe) due to the deficiency of an enzyme phenylalanine hydroxylase (PAH). Current therapy consists of a Phe – restricted diet for life to ensure the healthiest development. It is particularly important for PKU women in the reproductive age group to comply with the diet, since elevated maternal blood Phe levels during pregnancy are teratogenic to the fetus.
منابع مشابه
New Strategies for the Treatment of Phenylketonuria (PKU)
Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the disease's clinical features. Treatment of phenylketonuria remains difficult due to progressive decrease in adherence to diet and the presence of neurocognitive defects despite therapy. This review aims to summarize the current literature on new treatment strategies. Additions to t...
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