Advances in the nutritional and pharmacological management of phenylketonuria.

ABSTRACT:

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 s

SUBMITTER: Ney DM 

PROVIDER: S-EPMC4004170 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature