Progress toward cell-directed therapy for phenylketonuria.
Phenylketonuria (PKU) is one of the most common inborn errors of metabolism with an annual incidence of approximately 1:16,000 live births in North America. Contemporary therapy relies upon lifelong dietary protein restriction and supplementation with phenylalanine-free medical foods. This therapy is expensive and unpalatable; dietary compliance is difficult to maintain throughout life. Non-adherence to the diet is associated with learning disabilities, adult-onset neurodegenerative disease, and maternal PKU syndrome. The fervent dream of many individuals with PKU is a more permanent cure for this disease. This paper will review ongoing efforts to develop viable cell-directed therapies, in particular cell transplantation and gene therapy, for the treatment of PKU.
Harding
Co
C
Department of Molecular and Medical Genetics, and Department of Pediatrics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Road, Portland, OR 97239, USA. hardingc@ohsu.edu
D017690:Cell Transplantation / Q000379:methods*; D015316:Genetic Therapy / Q000379:methods*; D022781:Hepatocytes / Q000637:transplantation; D006801:Humans; D016031:Liver Transplantation; D010651:Phenylalanine Hydroxylase / Q000008:administration & dosage / Q000235:genetics; D010661:Phenylketonurias / Q000209:etiology / Q000378:metabolism / Q000628:therapy*
D010651:Phenylalanine Hydroxylase