Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

Abstract Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A, milder, presents after 12 months of age with progressive hypokinesis and rigidity. Type B presents before 12 months as a progressive...

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Bibliographic Details
Main Authors: Marjolaine Champagne, Gabriella A. Horvath, Sébastien Perreault, Julie Gauthier, Keith Hyland, Jean‐François Soucy, Grant A. Mitchell
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:JIMD Reports
Subjects:
neurological decompensation
TH
tyrosine hydroxylase deficiency
Online Access:https://doi.org/10.1002/jmd2.12306

Internet

https://doi.org/10.1002/jmd2.12306

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