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Tyrosine hydroxylase deficiency with severe clinical course.

TitleTyrosine hydroxylase deficiency with severe clinical course.
Publication TypeJournal Article
Year of Publication2009
AuthorsZafeiriou, D. I., Willemsen M. A., Verbeek M. M., Vargiami E., Ververi A., & Wevers R.
JournalMol Genet Metab
Volume97
Issue1
Pagination18-20
Date Published2009 May
ISSN1096-7206
KeywordsCase-Control Studies, Catecholamines, Child, Child, Preschool, Humans, Infant, Male, Tyrosine 3-Monooxygenase
Abstract

Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive disorder mapped to chromosome 11p15.5. Its clinical expression varies with presentations as dopa-responsive dystonia (recessive Segawa's disease), dopa-responsive infantile parkinsonism, dopa-responsive spastic paraplegia, progressive infantile encephalopathy or dopa-non-responsive dystonia. We describe a 7-year-old boy with progressive infantile encephalopathy and non-responsiveness to dopamine. The patient demonstrated generalized hypotonia, pyramidal tract dysfunction and temperature instability after the second month of life. Dystonia, tremor and oculogyric crises complicated the clinical picture during the following months. Neurotransmitter analysis in CSF disclosed almost undetectable levels of HVA and MHPG, whereas serum prolactin was profoundly increased. Subsequent molecular analysis revealed homozygosity for a missense mutation (c.707T>C) in the TH gene. l-Dopa therapy in both high and low doses resulted in massive hyperkinesias, while substitution with selegiline exerted only a mild beneficial effect. Today, at the age of 7 years, the patient demonstrates severe developmental retardation with marked trunkal hypotonia, hypokinesia and occasionally dystonic and/or hyperkinetic crises. He is the third Greek patient with TH deficiency to be reported. Since all three patients carry the same pathogenetic mutation, a founder effect is suspected.

DOI10.1016/j.ymgme.2009.02.001
Alternate JournalMol. Genet. Metab.
PubMed ID19282209

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