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tyrosine hydroxylase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tyrosine hydroxylase deficiency

MONDO:0100064

Also known as:TH deficiencytyrosine 3-monooxygenase deficiency

Overview

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).

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Tyrosine hydroxylase (TH) deficiency is associated with a wide phenotypic spectrum. Based on the severity of symptoms and signs as well as responsiveness to levodopa therapy, the three clinical phenotypes from mildest to most severe are: TH-deficient dopa-responsive dystonia (DRD) (DYT5b, DYT-TH); TH-deficient infantile parkinsonism with motor delay; and TH-deficient progressive infantile encephalopathy . In addition, several atypical severe forms have been recognized. None of the symptoms and signs of TH deficiency improve without proper treatment with levodopa .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Tyrosine hydroxylase (TH) deficiency is associated with a wide phenotypic spectrum. Based on severity of symptoms and signs as well as responsiveness to levodopa therapy, the three clinical phenotypes attributable to pathogenic variants in TH are: TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH ; the mild form of TH deficiency); TH-deficient infantile parkinsonism with motor delay (the severe form); and TH-deficient progressive infantile encephalopathy (the very severe form). Since clinical suspicion is a key to the diagnosis of TH deficiency, physicians should be aware of this broad phenotypic spectrum.

Suggestive Findings

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for tyrosine hydroxylase deficiency. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with tyrosine hydroxylase (TH) deficiency, the following are recommended if they have not already been completed:

Clinical examination to assess the severity of motor disturbances

Prognosis

GeneReviews

Surveillance Guidelines

Examination by a movement disorder specialist in pediatric or adult neurology at least several times yearly is recommended.

Source: GeneReviews — "Tyrosine Hydroxylase Deficiency"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for tyrosine hydroxylase deficiency.

36 publications have been identified in PubMed for tyrosine hydroxylase deficiency. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (22%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Laboratory research	18	50%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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Kisho

tyrosine hydroxylase deficiency

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Mild Form: TH-Deficient DRD (DYT5b, DYT-TH)

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Cognitive and emotional experiences of parents of children with Tyrosine Hydroxylase Deficiency during the diagnostic journey in Serbia: A preliminary study.

tyrosine hydroxylase deficiency

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Mild Form: TH-Deficient DRD (DYT5b, DYT-TH)

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Cognitive and emotional experiences of parents of children with Tyrosine Hydroxylase Deficiency during the diagnostic journey in Serbia: A preliminary study.