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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 2010
Michèl A Willemsen, and
Marcel M Verbeek, and
Erik-Jan Kamsteeg, and
Johanneke F de Rijk-van Andel, and
Alec Aeby, and
Nenad Blau, and
Alberto Burlina, and
Maria A Donati, and
Ben Geurtz, and
Padraic J Grattan-Smith, and
Martin Haeussler, and
Georg F Hoffmann, and
Hans Jung, and
Johannis B de Klerk, and
Marjo S van der Knaap, and
Fernando Kok, and
Vincenzo Leuzzi, and
Pascale de Lonlay, and
Andre Megarbane, and
Hugh Monaghan, and
Willy O Renier, and
Pierre Rondot, and
Monique M Ryan, and
Jürgen Seeger, and
Jan A Smeitink, and
Gerry C Steenbergen-Spanjers, and
Evangeline Wassmer, and
Bernhard Weschke, and
Frits A Wijburg, and
Bridget Wilcken, and
Dimitrios I Zafeiriou, and
Ron A Wevers
Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Paediatric Neurology (820 IKNC), PO Box 9101, 6500 HB Nijmegen, The Netherlands. m.willemsen@cukz.umcn.nl
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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