Tyrosine hydroxylase deficiency
Other Names for this Disease
- DOPA responsive dystonia, autosomal recessive
- Dystonia, DOPA responsive, autosomal recessive
- Parkinsonism, infantile, autosomal recessive
- Segawa syndrome, autosomal recessive
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Tests & Diagnosis
A diagnosis of tyrosine hydroxylase (TH) deficiency is typically suspected based on the presence of characteristic signs and symptoms. Analysis of a small sample of cerebrospinal fluid may be recommended to support the diagnosis and to rule out other conditions associated with similar features. Identification of a disease-causing change (mutation) in each copy of the TH gene confirms a diagnosis of TH deficiency.
Last updated: 2/16/2015
- 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/.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.