Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes

Erin L. MacLeod, Sally T. Gleason, Sandra C. van Calcar, Denise M. Ney

Research output: Contribution to journalArticlepeer-review

32 Scopus citations

Abstract

Lifelong treatment of phenylketonuria (PKU) includes a phenylalanine (phe) restricted diet that provides sufficient phe for growth and maintenance plus phe-free amino acid formula to meet requirements for protein, energy and micronutrients. Phe tolerance (mg phe/kg body weight/day) is the amount of phe those with PKU can consume and maintain acceptable blood phe levels; it requires individual assessment because of varying phenylalanine hydroxylase activity. The objective was to reassess phe tolerance in eight adults with PKU considering phe requirements, blood phe levels, genotype and phe tolerance at 5 years of age. Subjects had not received a personalized assessment of phe tolerance in several years, and five subjects were overweight, body mass index (BMI) 25-28. With the guidance of a metabolic dietitian, seven subjects increased phe tolerance (by 15-173%) without significantly increasing blood phe concentration. Increased phe tolerance was associated with both improved dietary compliance and inadequate phe intake at the onset of the protocol compared with current requirements. Improved dietary compliance reflected increased consumption of protein equivalents from amino acid formula and increased frequency of formula intake, from 2.2 to 3 times per day. Predictors of higher final phe tolerance following reassessment included being male and having a lower BMI (R2 = 0.588). This suggests that the rising trend of overweight and obesity may affect assessment of phe tolerance in adults. Therefore, interaction with the metabolic dietitian to reassess phe tolerance in relation to body mass is essential throughout adulthood to insure adequate intake of phe to support protein synthesis and prevent catabolism.

Original languageEnglish (US)
Pages (from-to)331-337
Number of pages7
JournalMolecular Genetics and Metabolism
Volume98
Issue number4
DOIs
StatePublished - Dec 2009
Externally publishedYes

Keywords

  • Amino acid requirements
  • Genotype-phenotype relationship
  • Low-phenylalanine diet
  • PKU

ASJC Scopus subject areas

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

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