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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis
Brain, Volume 133, No. 6, Year 2010
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Description
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer than 40 patients worldwide. To recapitulate all available evidence on clinical phenotypes and rational diagnostic and therapeutic approaches for this devastating, but treatable, neurometabolic disorder, we studied 36 patients with tyrosine hydroxylase deficiency and reviewed the literature. Based on the presenting neurological features, tyrosine hydroxylase deficiency can be divided in two phenotypes: an infantile onset, progressive, hypokinetic-rigid syndrome with dystonia (type A), and a complex encephalopathy with neonatal onset (type B). Decreased cerebrospinal fluid concentrations of homovanillic acid and 3-methoxy-4- hydroxyphenylethylene glycol, with normal 5-hydroxyindoleacetic acid cerebrospinal fluid concentrations, are the biochemical hallmark of tyrosine hydroxylase deficiency. The homovanillic acid concentrations and homovanillic acid/5-hydroxyindoleacetic acid ratio in cerebrospinal fluid correlate with the severity of the phenotype. Tyrosine hydroxylase deficiency is almost exclusively caused by missense mutations in the TH gene and its promoter region, suggesting that mutations with more deleterious effects on the protein are incompatible with life. Genotype-phenotype correlations do not exist for the common c.698G>A and c.707T>C mutations. Carriership of at least one promotor mutation, however, apparently predicts type A tyrosine hydroxylase deficiency. Most patients with tyrosine hydroxylase deficiency can be successfully treated with l-dopa. © The Author (2010).
Authors & Co-Authors
Willemsen, M. A.A.P.
Netherlands, Nijmegen
Radboud University Medical Center
Verbeek, Marcel M.
Netherlands, Nijmegen
Radboud University Medical Center
Kamsteeg, Erik Jan
Netherlands, Nijmegen
Radboud University Medical Center
de Rijk-van Andel, Johanneke F.
Netherlands, Breda
Amphia Hospital
Aeby, Alec
Belgium, Brussels
Hôpital Erasme
Blau, Nenad
Switzerland, Zurich
Kinderspital Zürich
Burlina, Alberto B.
Italy, Padua
Azienda Ospedale Università Padova
Donati, Maria Alice
Italy, Florence
Azienda Ospedaliero-universitaria Meyer
Geurtz, Ben
Netherlands, Nijmegen
Radboud University Medical Center
Grattan-Smith, Padraic J.
Australia, Sydney
Sydney Children's Hospital, Randwick
Haeussler, Martin
Germany, Wurzburg
Julius-maximilians-universität Würzburg
Hoffmann, Georg Friedrich
Germany, Heidelberg
Universitätsklinikum Heidelberg
Jung, Hans
Switzerland, Zurich
Universitätsspital Zürich, Klinik Für Neurologie
De Klerk, Johannis B.
Netherlands, Rotterdam
Erasmus Mc Sophia Children’s Hospital
van der Knaap, Marjo S.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Kok, Fernando
Brazil, Sao Paulo
Universidade de São Paulo
Leuzzi, Vincenzo
Italy, Rome
Sapienza Università Di Roma
de Lonlay, Pascale D.
France, Paris
Université Paris Cité
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Monaghan, Hugh
Ireland, Dublin
Our Lady's Hospital for Sick Children
Renier, Willy O.
Netherlands, Nijmegen
Canisius Wilhelmina Ziekenhuis
Rondot, Pierre
France, Le Kremlin-bicetre
Hopital de Bicetre
Ryan, Monique M.
Australia, Melbourne
University of Melbourne
Seeger, Jürgen
Germany, Wiesbaden
Deutsche Klinik Für Diagnostik
Smeitink, Jan A.M.
Netherlands, Nijmegen
Radboud University Medical Center
Steenbergen-Spanjers, Gerry C.
Netherlands, Nijmegen
Radboud University Medical Center
Wassmer, Evangeline
United Kingdom, Birmingham
Birmingham Children's Hospital
Weschke, Bernhard
Germany, Berlin
Charité – Universitätsmedizin Berlin
Wijburg, Frits A.
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Wilcken, Bridget M.
Australia, Sydney
The Children's Hospital at Westmead
Zafeiriou, Dimitrios I.
Greece, Thessaloniki
Aristotle University of Thessaloniki
Wevers, Ron Allan
Netherlands, Nijmegen
Radboud University Medical Center
Statistics
Citations: 196
Authors: 32
Affiliations: 26
Identifiers
Doi:
10.1093/brain/awq087
e-ISSN:
14602156
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health