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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, weakness on one side of the body 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

WE MOVE (Worldwide Education and Awareness for Movement Disorders)

5731 Mosholu Avenue

Bronx, NY 10471

USA

Tel: (347)843-6132

Fax: (718)601-5112

Email: wemove@wemove.org

Internet: http://www.wemove.org



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:  2/10/2011

Copyright  2011 National Organization for Rare Disorders, Inc.

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