Tyrosine Hydroxylase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the TH gene, encoding tyrosine 3-monooxygenase. It is characterized by onset in infancy of dopa-responsive dystonia.

**Synonyms:** - Dystonia, Dopa-Responsive, Autosomal Recessive - Parkinsonism, Infantile, Autosomal Recessive - Segawa Syndrome, Autosomal Recessive