Journal of Inherited Metabolic Disease

, 32:3

What we know that could influence future treatment of phenylketonuria

Authors

    • Departments of Biology, Human Genetics and PediatricsMcGill University
    • DeBelle Laboratory for Biochemical GeneticsMontreal Children’s Hospital Research Institute
  • A. Gámez
    • Centro de Biología Molecular Severo Ochoa, Nicolás Cabrera 1 Laboratorio 204. Campus CantoblancoUniversidad Autónoma de Madrid
  • C. R. Scriver
    • Departments of Biology, Human Genetics and PediatricsMcGill University
    • DeBelle Laboratory for Biochemical GeneticsMontreal Children’s Hospital Research Institute
BH4 and PKU

DOI: 10.1007/s10545-008-0917-7

Cite this article as:
Sarkissian, C.N., Gámez, A. & Scriver, C.R. J Inherit Metab Dis (2009) 32: 3. doi:10.1007/s10545-008-0917-7

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.

Abbreviations

PKU

phenylketonuria

PAH

phenylalanine hydroxylase gene

PAH

phenylalanine hydroxylase

Phe

phenylalanine

Tyr

tyrosine

HPA

hyperphenylalaninaemia

LSDB

locus-specific database

PAHdb

phenylalanine hydroxylase locus-specific mutation database

BH4

(6R)-l-erythro-5,6,7,8-tetrahydrobiopterin

LNAA

large neutral amino acids

PAL

phenylalanine ammonia lyase

PEG

polyethylene glycol

Copyright information

© Springer Science+Business Media B.V. 2008