Phenylketonuria

Phenylketonuria is an autosomal recessive inborn error of metabolism characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase, which converts phenylalanine into tyrosine This defect leads to the systemic accumulation of phenylalanine and its metabolites in the blood and tissues, primarily impacting the central nervous system

Phenylketonuria is an autosomal recessive inborn error of metabolism characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase, which converts phenylalanine into tyrosine

This defect leads to the systemic accumulation of phenylalanine and its metabolites in the blood and tissues, primarily impacting the central nervous system

Typically identified during newborn screening, untreated disease manifests clinically with profound and irreversible intellectual disability, microcephaly, developmental delay, seizures, behavioral abnormalities, hypopigmentation, and a characteristic musty body odor

Typically identified during newborn screening, untreated disease manifests clinically with profound and irreversible intellectual disability, microcephaly, developmental delay, seizures, behavioral abnormalities, hypopigmentation, and a characteristic musty body odor

Typically identified during newborn screening, untreated disease manifests clinically with profound and irreversible intellectual disability, microcephaly, developmental delay, seizures, behavioral abnormalities, hypopigmentation, and a characteristic musty body odor