Defects in amino acid metabolism - Phenylketonuria

Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH) which converts phenylalanine (Phe) into tyrosine (PMID:23622399). Due to this defect, patients with PKU present with high Phe and low tyrosine concentrations in their tissue and if untreated, PKU leads to severe neurological damage due to the accumulation of Phe and its metabolites (PMID:26425393).

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