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Tyrosine hydroxylase deficiency

MONDO:0100064

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).

Also known as: TH deficiency, tyrosine 3-monooxygenase deficiency, tyrosine Hydroxylase deficiency, tyrosine hydroxylase deficiency

25 clinical trials for this condition and its sub-types.

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Sub-types

TH-deficient dopa-responsive dystonia (1) TH-deficient infantile parkinsonism and motor delay (0) TH-deficient progressive infantile encephalopathy (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Inborn disorder of biogenic amine metabolism and transport (0) Inborn disorder of neurotransmitter metabolism and transport (0)
Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 4 Completed 5
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