Treating phenylketonuria: A single centre experience

Marcello Giovannini, E. Riva, E. Salvatici, L. Fiori, S. Paci, E. Verduci, C. Agostoni

Research output: Contribution to journalArticlepeer-review


Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine levels with a range of severities, including phenylketonuria (PKU). Since the first attempts at treatment using a low-phenylalanine diet and after more than 50 years of research, considerable progress has been made so we are now at a stage where mental retardation caused by high plasma phenylalanine can be prevented. We must, however, be aware of the new challenges we face in managing PKU. These include: maintaining optimal growth by providing enough phenylalanine without jeopardizing the child's psychomotor development; providing an optimal nutritional status that ensures other essential nutrients, such as long chain polyunsaturated fatty acids, are not excluded from the diet; ensuring optimal compliance to the dietary intervention; and considering patients' quality of life. New strategies, such as tetrahydrobiopterin (BH4) supplementation, need to be evaluated with regard to safety, efficacy and expected outcomes in specific types of HPA.

Original languageEnglish
Pages (from-to)742-752
Number of pages11
JournalJournal of International Medical Research
Issue number6
Publication statusPublished - Nov 2007


  • Cognitive function
  • Growth
  • Hyperphenylalaninaemia (HPA)
  • Large neutral amino acids
  • Long-chain polyunsaturated fatty acids
  • Low-phenylalanine diet
  • Phenylketonuria (PKU)
  • Plasma phenylalanine
  • Tetrahydrobiopterin (BH4) responsiveness

ASJC Scopus subject areas

  • Medicine(all)


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