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Serum prolactin as a tool for the follow‐up of treated DHPR‐deficient patients
Author(s) -
Concolino D.,
Muzzi G.,
Rapsomaniki M.,
Moricca M. T.,
Pascale M. G.,
Strisciuglio P.
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0788-3
Subject(s) - tetrahydrobiopterin , prolactin , phenylketonurias , biomarker , basal (medicine) , hyperphenylalaninemia , medicine , disease , endocrinology , phenylalanine hydroxylase , human genetics , pediatrics , biology , phenylalanine , genetics , hormone , amino acid , gene , nitric oxide synthase , nitric oxide , insulin
Summary Deficiency of dihydropteridine reductase causes a variant form of phenylketonuria associated with a devastating neurological disease characterized by mental retardation, hypokinesis and other features relating to basal ganglia disorder. Hyperphenylalaninaemias with tetrahydrobiopterin deficiency make up about 1–3% of all hyperphenylalaninaemias. We describe three patients from Calabria, a southern region of Italy, who have a dihydropteridine reductase deficiency, caused by the same mutation (p.L14P) also found in the nearby region of Sicily. We report the evolution of clinical and biochemical data during the treatment of these patients where we used prolactin serum determination to adapt the specific therapy. This report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long‐term treatment monitoring.