High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?

Abstract We report the case of a 22‐year‐old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L‐Dopa supplementation the patient continued to show high prolactin levels, with a discrepancy between the neurologic...

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Bibliographic Details
Main Authors: Nicola Vitturi, Livia Lenzini, Concetta Luisi, Miryam Carecchio, Giorgia Gugelmo, Francesco Francini‐Pesenti, Angelo Avogaro
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:JIMD Reports
Subjects:
BH4
Online Access:https://doi.org/10.1002/jmd2.12236