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| Verfasst von: | Willemsen, Michèl A. [VerfasserIn]  |
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| | Verbeek, Marcel M. [VerfasserIn] |
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| | Kamsteeg, Erik-Jan [VerfasserIn] |
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| | Rijk-van Andel, Johanneke F. de [VerfasserIn] |
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| | Aeby, Alec [VerfasserIn] |
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| | Blau, Nenad [VerfasserIn] |
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| | Burlina, Alberto [VerfasserIn] |
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| | Donati, Maria A. [VerfasserIn] |
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| | Geurtz, Ben [VerfasserIn] |
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| | Grattan-Smith, Padraic J. [VerfasserIn] |
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| | Haeussler, Martin [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Jung, Hans [VerfasserIn] |
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| | Klerk, Johannis B. de [VerfasserIn] |
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| | Van der Knaap, Marjo S. [VerfasserIn] |
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| | Kok, Fernando [VerfasserIn] |
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| | Leuzzi, Vincenzo [VerfasserIn] |
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| | Lonlay, Pascale de [VerfasserIn] |
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| | Megarbane, Andre [VerfasserIn] |
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| | Monaghan, Hugh [VerfasserIn] |
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| | Renier, Willy O. [VerfasserIn] |
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| | Rondot, Pierre [VerfasserIn] |
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| | Ryan, Monique M. [VerfasserIn] |
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| | Seeger, Jürgen [VerfasserIn] |
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| | Smeitink, Jan A. [VerfasserIn] |
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| | Steenbergen-Spanjers, Gerry C. [VerfasserIn] |
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| | Wassmer, Evangeline [VerfasserIn] |
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| | Weschke, Bernhard [VerfasserIn] |
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| | Wijburg, Frits A. [VerfasserIn] |
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| | Wilcken, Bridget [VerfasserIn] |
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| | Zafeiriou, Dimitrios I. [VerfasserIn] |
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| | Wevers, Ron A. [VerfasserIn] |
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| Titel: | Tyrosine hydroxylase deficiency |
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| Titelzusatz: | a treatable disorder of brain catecholamine biosynthesis |
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| Verf.angabe: | Michèl A. Willemsen, Marcel M. Verbeek, Erik-Jan Kamsteeg, Johanneke F. de Rijk-van Andel, Alec Aeby, Nenad Blau, Alberto Burlina, Maria A. Donati, Ben Geurtz, Padraic J. Grattan-Smith, Martin Haeussler, Georg F. Hoffmann, Hans Jung, Johannis B. de Klerk, Marjo S. van der Knaap, Fernando Kok, Vincenzo Leuzzi, Pascale de Lonlay, Andre Megarbane, Hugh Monaghan, Willy O. Renier, Pierre Rondot, Monique M. Ryan, Jürgen Seeger, Jan A. Smeitink, Gerry C. Steenbergen-Spanjers, Evangeline Wassmer, Bernhard Weschke, Frits A. Wijburg, Bridget Wilcken, Dimitrios I. Zafeiriou and Ron A. Wevers |
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| E-Jahr: | 2010 |
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| Jahr: | June 2010 |
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| Umfang: | 13 S. |
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| Fussnoten: | Published: 29 April 2010 ; Gesehen am 07.02.2024 |
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| Titel Quelle: | Enthalten in: Brain |
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| Ort Quelle: | Oxford : Oxford Univ. Press, 1878 |
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| Jahr Quelle: | 2010 |
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| Band/Heft Quelle: | 133(2010), 6 vom: Juni, Seite 1810-1822 |
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| ISSN Quelle: | 1460-2156 |
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| Abstract: | 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. |
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| DOI: | doi:10.1093/brain/awq087 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1093/brain/awq087 |
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| | DOI: https://doi.org/10.1093/brain/awq087 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1880241137 |
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| Verknüpfungen: | → Zeitschrift |
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Tyrosine hydroxylase deficiency / Willemsen, Michèl A. [VerfasserIn]; June 2010 (Online-Ressource)
