Transient phenylketonuria in the premature

Phenylketonuria (PKU) is the most frequent hereditary metabolic disorder in our environment. Its frequency ranges between 1 / 4000-40,000 live births. PKU is an autosomal recessive inborn error of phenylalanine (phe) metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine, together with its cofactor tetrahydrobiopterin (BH4), into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems.

Source: Nutrition - August 20, 2018 Category: Nutrition Authors: Beatriz Salamanca-Zarzuela, Mar ía Elena Infante López, Carlos Alcalde Martín Source Type: research