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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
Related Diseases
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Overview

Tyrosine hydroxylase (TH) deficiency is a rare inherited condition that affects the nervous system. There are three different forms of the condition that vary in severity. The mild form is called TH-deficient dopa-responsive dystonia and typically develops between age twelve months and six years. The two severe forms, which are called infantile parkinsonism and progressive infantile encephalopathy, often begin shortly after birth or during early infancy. Although there is some overlap of features among the three forms, each is associated with unique signs and symptoms. TH deficiency is caused by changes (mutations) in the TH gene and is inherited in an autosomal recessive manner. Affected people are usually treated with levodopa therapy.[1][2][3]
Last updated: 2/16/2015

References

  1. Tyrosine hydroxylase deficiency. Genetic Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency.
  2. Tyrosine hydroxylase deficiency. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1245/viewAbstract.
  3. Yoshiaki Furukawa, MD, PhD and Stephen Kish, PhD. Tyrosine Hydroxylase Deficiency. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1437/.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Tyrosine hydroxylase deficiency. Click on the link to view a sample search 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
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.