[HTML][HTML] Phenylketonuria: an inborn error of phenylalanine metabolism

RA Williams, CDS Mamotte… - The Clinical Biochemist …, 2008 - ncbi.nlm.nih.gov
RA Williams, CDS Mamotte, JR Burnett
The Clinical Biochemist Reviews, 2008ncbi.nlm.nih.gov
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe)
metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of
PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on
chromosome 12q23. 2. Untreated PKU is associated with an abnormal phenotype which
includes growth failure, poor skin pigmentation, microcephaly, seizures, global
developmental delay and severe intellectual impairment. However, since the introduction of …
Abstract
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23. 2. Untreated PKU is associated with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intellectual impairment. However, since the introduction of newborn screening programs and with early dietary intervention, children born with PKU can now expect to lead relatively normal lives. A better understanding of the biochemistry, genetics and molecular basis of PKU, as well as the need for improved treatment options, has led to the development of new therapeutic strategies.
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