Abstract
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 language | English |
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Pages (from-to) | 137-139 |
Number of pages | 3 |
Journal | Molecular Genetics and Metabolism |
Volume | 81 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 2004 |
ASJC Scopus subject areas
- Biochemistry
- Genetics
- Endocrinology, Diabetes and Metabolism