Phenylketonuria: dietary and therapeutic challenges

J Inherit Metab Dis. 2007 Apr;30(2):145-52. doi: 10.1007/s10545-007-0552-8. Epub 2007 Mar 8.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Amino Acids / therapeutic use
  • Biopterins / analogs & derivatives
  • Biopterins / therapeutic use
  • Breast Feeding
  • Fatty Acids, Unsaturated / administration & dosage
  • Fatty Acids, Unsaturated / chemistry
  • Growth Disorders / prevention & control
  • Humans
  • Nervous System / growth & development
  • Nutritional Status
  • Overweight
  • Phenylketonurias / diet therapy*
  • Phenylketonurias / drug therapy*
  • Phenylketonurias / physiopathology

Substances

  • Amino Acids
  • Fatty Acids, Unsaturated
  • Biopterins
  • sapropterin