Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids

D. Concolino, I. Mascaro, M. T. Moricca, G. Bonapace, K. Matalon, J. Trapasso, G. Radhakrishnan, C. Ferrara, R. Matalon, P. Strisciuglio

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Background/Objectives:Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanine hydroxylase. A low phenylalanine (Phe) diet is used to treat PKU. The diet is very restrictive, and dietary adherence tends to decrease as patients get older. Methods to improve dietary adherence and blood Phe control are continuously under investigation.Subjects/Methods:A new formula Phe-neutral amino acid (PheLNAA) has been tested in this study with the purpose of improving the compliance and lowering blood phenylalanine. The formula has been tested for nitrogen balance, and it is nutritionally complete. It is fortified with more nutritional additives that can be deficient in the PKU diet, such as B12, Biotin, DHA, Lutein and increased levels of large neutral amino acids to help lower blood Phe. The new formula has been tested on 12 patients with a loading test of 4 weeks.Results:Fifty-eight percent of patients had a significant decline in blood Phe concentration from baseline throughout the study. The PheLNAA was well tolerated with excellent compliance and without illnesses during the study.Conclusions:In conclusion, the new formula is suitable for life-long treatment of PKU, and it offers the PKU clinic a new choice for treatment.

Original languageEnglish (US)
Pages (from-to)51-55
Number of pages5
JournalEuropean Journal of Clinical Nutrition
Volume71
Issue number1
DOIs
StatePublished - Jan 1 2017

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Nutrition and Dietetics

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