Journal of Inherited Metabolic Disease

, Volume 30, Issue 2, pp 145–152

Phenylketonuria: Dietary and therapeutic challenges

  • M. Giovannini
  • E. Verduci
  • E. Salvatici
  • L. Fiori
  • E. Riva
ICIEM 2006

DOI: 10.1007/s10545-007-0552-8

Cite this article as:
Giovannini, M., Verduci, E., Salvatici, E. et al. J Inherit Metab Dis (2007) 30: 145. doi:10.1007/s10545-007-0552-8

Summary

PKU subjects need special attention in the definition of optimal supplementation of nutrients, which may be insufficient in relation to the type of diet and may otherwise manifest symptoms of deficit. In particular, it is necessary to pay great attention to the long-chain polyunsaturated fatty acid (LC-PUFA) levels in relation to correct development of the central nervous system. On the basis of numerous beneficial effects currently known, a permanent supplementation with LC-PUFAs, in particular with docosahexaenoic acid, should be considered. Moreover, new formulas, Phe-free peptides, and ‘modulated’ amino acid preparations might help in preventing nutritional deficiencies and imbalances, with the ultimate aim of improving growth. New strategies—such as supply of tetrahydrobiopterin—need to be optimized in terms of targets, patients and expected outcomes.

Abbreviations

ALA

α-linolenic acid

AA

arachidonic acid

α-TQ

α-tocopherolchinone

BH4

tetrahydrobiopterin

CNS

central nervous system

DHA

docosahexaenoic acid

DHPR

dihydropteridine reductase

GMP

glycomacropeptide

HPA

hyperphenylalaninaemia

IQ

intelligence quotient

LC-PUFA

long-chain polyunsaturated fatty acid

LNAA

large neutral amino acid

MHP

mild hyperphenylalaninaemia

PAH

phenylalanine hydroxylase

Phe

phenylalanine

PKU

phenylketonuria

PUFA

polyunsaturated fatty acids

Thr

threonine

Tyr

tyrosine

VEP

visual evoked potentials

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  • M. Giovannini
    • 1
  • E. Verduci
    • 1
  • E. Salvatici
    • 1
  • L. Fiori
    • 1
  • E. Riva
    • 1
  1. 1.Department of Pediatrics, San Paolo HospitalUniversity of MilanMilanItaly