inborn disorder of neurotransmitter metabolism and transport tyrosine hydroxylase deficiency 2018-11-09T23:43:34Z 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). tyrosine Hydroxylase deficiency NCIT:C157158 icd11.foundation:247698609 NANDO:2200595 tyrosine hydroxylase deficiency MEDGEN:1814581 MONDO:0100064 GARD:0026032 tyrosine 3-monooxygenase deficiency MESH:C537537 TH deficiency UMLS:C5700309