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
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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/.
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- 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.
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