BH4 and PKU

Journal of Inherited Metabolic Disease

, 32:3

First online:

What we know that could influence future treatment of phenylketonuria

  • C. N. SarkissianAffiliated withDepartments of Biology, Human Genetics and Pediatrics, McGill UniversityDeBelle Laboratory for Biochemical Genetics, Montreal Children’s Hospital Research Institute Email author 
  • , A. GámezAffiliated withCentro de Biología Molecular Severo Ochoa, Nicolás Cabrera 1 Laboratorio 204. Campus Cantoblanco, Universidad Autónoma de Madrid
  • , C. R. ScriverAffiliated withDepartments of Biology, Human Genetics and Pediatrics, McGill UniversityDeBelle Laboratory for Biochemical Genetics, Montreal Children’s Hospital Research Institute

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Summary

Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism that can result in impaired postnatal cognitive development. The phenotypic outcome is multifactorial in origin, based both in nature, the mutations in the gene encoding the l-phenylalanine hydroxylase enzyme, and nurture, the nutritional experience introducing l-phenylalanine into the diet. The PKU story contains many messages including a framework to appreciate the complexity of this disease where phenotype reflects both locus-specific and genomic components. This knowledge is now being applied in the development of patient-specific therapies.