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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tyrosine hydroxylase deficiency


Other Names for this Disease
  • Autosomal recessive dopa-responsive dystonia
  • Autosomal recessive Segawa syndrome
  • DOPA responsive dystonia, autosomal recessive
  • Dystonia, DOPA responsive, autosomal recessive
  • DYT5b
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Treatment

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How might tyrosine hydroxylase deficiency be treated?

People affected by tyrosine hydroxylase (TH) deficiency are generally treated with a medication called levodopa. The effectiveness of levodopa therapy varies significantly depending on the severity of the condition. People affected by the mild form of TH deficiency (TH-deficient dopa-responsive dystonia) generally respond well to treatment. In most cases, this medication is able to drastically improve or even completely alleviate associated symptoms.[1][2]

Unfortunately, children with infantile parkinsonism or progressive infantile encephalopathy (the two severe forms of TH deficiency) may have an incomplete response to levodopa, or it may take several months to several years to see an improvement in symptoms. In many cases, affected children are also extremely sensitive to the drug and may experience negative side affects such as difficulties in performing voluntary movements (dyskinesia), vomiting and appetite suppression of appetite.[1][2]
Last updated: 2/16/2015

References
  1. Tyrosine hydroxylase deficiency. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1245/viewAbstract.
  2. Yoshiaki Furukawa, MD, PhD and Stephen Kish, PhD. Tyrosine Hydroxylase Deficiency. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1437/.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
Other Names for this Disease
  • Autosomal recessive dopa-responsive dystonia
  • Autosomal recessive Segawa syndrome
  • DOPA responsive dystonia, autosomal recessive
  • Dystonia, DOPA responsive, autosomal recessive
  • DYT5b
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.