Advances in the nutritional and pharmacological management of phenylketonuria. Curr Opin Clin Nutr Metab Care 2014 Jan;17(1):61-8
Date
10/19/2013Pubmed ID
24136088Pubmed Central ID
PMC4004170DOI
10.1097/MCO.0000000000000002Scopus ID
2-s2.0-84891042377 (requires institutional sign-in at Scopus site) 36 CitationsAbstract
PURPOSE OF REVIEW: The purpose is to discuss advances in the nutritional and pharmacological management of phenylketonuria (PKU).
RECENT FINDINGS: Glycomacropeptide (GMP), a whey protein produced during cheese production, is a low-phenylalanine (phe) intact protein that represents a new dietary alternative to synthetic amino acids for people with PKU. Skeletal fragility is a long-term complication of PKU that based on murine research, appears to result from both genetic and nutritional factors. Skeletal fragility in murine PKU is attenuated with the GMP diet, compared with an amino acid diet, allowing greater radial bone growth. Pharmacologic therapy with tetrahydrobiopterin, acting as a molecular chaperone for phenylalanine hydroxylase, increases tolerance to dietary phe in some individuals. Large neutral amino acids inhibit phe transport across the intestinal mucosa and blood-brain barrier, and are most effective for individuals unable to comply with the low-phe diet.
SUMMARY: Although a low-phe synthetic amino acid diet remains the mainstay of PKU management, new nutritional and pharmacological treatment options offer alternative approaches to maintain lifelong low phe concentrations. GMP medical foods provide an alternative to amino acid formula that may improve bone health, and tetrahydrobiopterin permits some individuals with PKU to increase tolerance to dietary phe. Further research is needed to characterize the long-term efficacy of these new approaches for PKU management.
Author List
Ney DM, Blank RD, Hansen KEMESH terms used to index this publication - Major topics in bold
Amino AcidsBone and Bones
Caseins
Dietary Supplements
Humans
Milk Proteins
Mutation
Peptide Fragments
Phenylalanine
Phenylalanine Hydroxylase
Phenylketonurias
Randomized Controlled Trials as Topic
Tyrosine
Whey Proteins
