Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

R. Cerone, M. C. Schiaffino, A. R. Fantasia, M. Perfumo, L. Birk Moller, N. Blau

Research output: Contribution to journalArticlepeer-review


We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (4 in the treatment of some patients with mild PKU.

Original languageEnglish
Pages (from-to)137-139
Number of pages3
JournalMolecular Genetics and Metabolism
Issue number2
Publication statusPublished - Feb 2004

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism


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