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Tyrosine Hydroxylase Deficiency

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Tyrosine Hydroxylase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • autosomal recessive dopa-responsive dystonia
  • autosomal recessive infantile Parkinsonism
  • autosomal recessive Segawa syndrome
  • TH deficiency
  • tyrosine hydroxylase-deficient dopa-responsive dystonia (TH-DRD)

Disorder Subdivisions

  • None

General Discussion

Tyrosine hydroxylase deficiency is a rare genetic disorder characterized by a wide spectrum of disease ranging from a mild movement disorder at one end to a life-threatening, neurological disorder at the other. The symptoms of the disorder can vary widely from person to another, even among members of the same family. Common symptoms include an uncoordinated or clumsy manner of walking (abnormal gait) and dystonia. Dystonia is a general term for a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). Dystonia in tyrosine hydroxylase deficiency usually affects the legs. Additional symptoms that may occur include tremors, eye abnormalities, and a tendency of affected children to walk on their tiptoes. The severe form of tyrosine hydroxylase deficiency causes symptoms at a very young age (first months of life). The symptoms generally do not resemble those of a movement disorder, but rather give the impression of a severe, diffuse brain disorder. Mild and moderate forms of tyrosine hydroxylase deficiency show dramatic improvement when treated with levodopa. Levodopa is an amino acid that is converted to dopamine. Dopamine is a brain chemical that serves as a neurotransmitter and is deficient in children with tyrosine hydroxylase deficiency. Treatment options for severe tyrosine hydroxylase deficiency have been less effective. Tyrosine hydroxylase deficiency occurs due to disruptions or changes (mutations) of the TH gene. The TH gene mutation is inherited as an autosomal recessive trait.

Resources

Dystonia Medical Research Foundation
1 East Wacker Drive, Suite 2810 East Wacker Drive
Suite 2810
Chicago, IL 60601-1905
United States
Tel: (312)755-0198
Fax: (312)803-0138
Tel: (800)377-3978
Email: dystonia@dystonia-foundation.org
Internet: http://www.dystonia-foundation.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/

Dystonia Society
89 Albert Embankment, 2nd Floor
Vauxhall
London, SE1 7TP
United Kingdom
Tel: 08454586211
Fax: 08454586311
Tel: 08454586322
Email: angie@dystonia.org.uk
Internet: http://www.dystonia.org.uk

Pediatric Neurotransmitter Disease Association
28 Prescott Place
Old Bethpage, NY 11804
Tel: (603)733-8409
Email: pndassociation@aol.com
Internet: http://www.pndassoc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/1/2014
Copyright  2011, 2014 National Organization for Rare Disorders, Inc.

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