Tyrosine hydroxylase deficiency
Other Names for this Disease
- Parkinsonism, infantile, autosomal recessive
- Dystonia, DOPA responsive, autosomal recessive
- DOPA responsive dystonia, autosomal recessive
- Segawa syndrome, autosomal recessive
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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.Tyrosine hydroxylase (TH) deficiency is a rare inherited condition that affects the
Last updated: 2/16/2015
- Tyrosine hydroxylase deficiency. Genetic Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency.
- Tyrosine hydroxylase deficiency. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1245/viewAbstract.
- Yoshiaki Furukawa, MD, PhD and Stephen Kish, PhD. Tyrosine Hydroxylase Deficiency. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1437/.
- Genetics Home Reference (GHR) contains information on Tyrosine hydroxylase deficiency. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.