IEMbase 0099: TH-related tyrosine hydroxylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 99 |
| Nosology | 23.1.01.01 |
| Gene | TH |
| External IDs | OMIM:191290 |
| Generated mapping | AMBIGUOUS |
| Candidate DisMech targets | Autosomal_Recessive_Dopa_Responsive_Dystonia.yaml; Disorder_of_Catecholamine_Synthesis.yaml#Tyrosine hydroxylase deficiency; Dopa_Responsive_Dystonia.yaml#AR-DRD |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive TH-related tyrosine hydroxylase deficiency, with alternate labels L-dopa responsive dystonia and TH. Treatability is marked yes.
The characteristic biochemical rows are CSF MHPG, CSF HVA/5-HIAA ratio, and CSF homovanillic acid. The wider panel also includes CSF 5-HIAA, urinary dopamine, urinary homovanillic acid, urinary norepinephrine, urinary VMA, and plasma prolactin.
The characteristic clinical rows include bradykinesia, dystonia, hypokinesia, hypotonia, intellectual disability, oculogyric crisis, ptosis, rigidity, tremor, feeding difficulties, drooling, irritability and lethargy crises, sweating, temperature instability, sleep disturbance, growth retardation, epileptic seizures, and complicated perinatal course.
Treatment is L-dopa plus carbidopa.
DisMech phenotype coverage
The generated AMBIGUOUS status is understandable, but the canonical local target
should be Autosomal_Recessive_Dopa_Responsive_Dystonia.yaml.
That file has the exact MONDO concept for TH-deficient dopa-responsive dystonia, TH biallelic pathogenic variants, tyrosine hydroxylase enzymatic deficiency, central dopamine biosynthesis impairment, infantile parkinsonism and progressive infantile encephalopathy subtypes, low CSF homovanillic acid, bradykinesia, hypokinesia, hypotonia, oculogyric crises, ptosis, rigidity, tremor, feeding difficulties, drooling/excessive salivation, sweating/night sweats, and levodopa with a decarboxylase inhibitor.
Dopa_Responsive_Dystonia.yaml#AR-DRD is useful group-level context.
Disorder_of_Catecholamine_Synthesis.yaml#Tyrosine hydroxylase deficiency is
useful pathway-umbrella context. Neither is as specific as the standalone
TH-deficient AR DRD entry.
Concordance and completeness
Judgement: ambiguous generated mapping with high local disease-level coverage once the specific target is selected.
IEMbase is richer for neurotransmitter-panel detail, especially MHPG, HVA/5-HIAA ratio, urinary catecholamines, VMA, and prolactin. DisMech is richer for disease scope, subtype structure, pathophysiology, genetic evidence, and levodopa-response rationale.
Curation actions
- Resolve this record to
Autosomal_Recessive_Dopa_Responsive_Dystonia.yamlas the canonical target. - Keep
Dopa_Responsive_Dystonia.yaml#AR-DRDandDisorder_of_Catecholamine_Synthesis.yaml#Tyrosine hydroxylase deficiencyas secondary umbrella contexts. - Consider adding additional neurotransmitter biomarkers from IEMbase if the TH entry is expanded.