tyrosine hydroxylase deficiency
Findings
No curated finding names tyrosine hydroxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0100064), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- THHGNC:11782
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: tyrosine hydroxylase deficiency
- Also called
- TH deficiencytyrosine 3-monooxygenase deficiency