Up to date knowledge on different treatment strategies for phenylketonuria

Amaya Bélanger-Quintana, Alberto Burlina, Cary Harding, Ania C. Muntau

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

Dietary management for phenylketonuria was established over half a century ago, and has rendered an immense success in the prevention of the severe mental retardation associated with the accumulation of phenylalanine. However, the strict low-phenylalanine diet has several shortcomings, not the least of which is the burden it imposes on the patients and their families consequently frequent dietary non-compliance. Imperfect neurological outcome of patients in comparison to non-PKU individuals and nutritional deficiencies associated to the PKU diet are other important reasons to seek alternative therapies. In the last decade there has been an impressive effort in the investigation of other ways to treat PKU that might improve the outcome and quality of life of these patients. These studies have lead to the commercialization of sapropterin dihydrochloride, but there are still many questions regarding which patients to challenge with sapropterin what is the best challenge protocol and what could be the implications of this treatment in the long-term. Current human trials of PEGylated phenylalanine ammonia lyase are underway, which might render an alternative to diet for those patients non-responsive to sapropterin dihydrochloride. Preclinical investigation of gene and cell therapies for PKU is ongoing. In this manuscript, we will review the current knowledge on novel pharmacologic approaches to the treatment of phenylketonuria.

Original languageEnglish (US)
JournalMolecular Genetics and Metabolism
Volume104
Issue numberSUPPL.
DOIs
StatePublished - 2011

Fingerprint

Phenylketonurias
Nutrition
Phenylalanine
Phenylalanine Ammonia-Lyase
Diet
Therapeutics
Genes
Complementary Therapies
Cell- and Tissue-Based Therapy
Malnutrition
Intellectual Disability
Genetic Therapy
Quality of Life
sapropterin

Keywords

  • Gene therapy
  • Phenylalanine ammonia lyase
  • Phenylketonuria
  • Sapropterin
  • Tetrahydrobiopterin

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Up to date knowledge on different treatment strategies for phenylketonuria. / Bélanger-Quintana, Amaya; Burlina, Alberto; Harding, Cary; Muntau, Ania C.

In: Molecular Genetics and Metabolism, Vol. 104, No. SUPPL., 2011.

Research output: Contribution to journalArticle

Bélanger-Quintana, Amaya ; Burlina, Alberto ; Harding, Cary ; Muntau, Ania C. / Up to date knowledge on different treatment strategies for phenylketonuria. In: Molecular Genetics and Metabolism. 2011 ; Vol. 104, No. SUPPL.
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