Nutrition and New Treatment Approaches in Phenylketonuria


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ÜLKER İ., Sanlier N.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, vol.16, no.2, pp.187-198, 2018 (ESCI) identifier identifier

Abstract

Phenylketonuria (PKU) is an autosomal recessively inherited disease.It occurs due to the mutations in the gene of phenylalanine hydroxylase (PAH).While the level of plasma phenylalanine (Phe) is within normal range after birth,the plasma Phe level of infants arise when they begin to feed.If appropriate medical and nutritional therapies are not implemented,many clinical sings,such as mental illness (IQ<50),skin-hair pigmentation disorders,growth retardation,microcephaly,epilepsy,behavioral disorders, hyperactivity, anxiety and so on may be observed.