tyrosine hydroxylase deficiency
Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).
MONDO:0019219
inborn disorder of neurotransmitter metabolism and transport
is_a
TH deficiency
exact
tyrosine 3-monooxygenase deficiency
exact
tyrosine Hydroxylase deficiency
exact
tyrosine hydroxylase deficiency
exact