Tyrosine hydroxylase deficiency (Q86668)
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This is a condition presenting between 2-18 months of age, characterised by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_247698609 |
||
| English | Tyrosine hydroxylase deficiency |
This is a condition presenting between 2-18 months of age, characterised by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol. |
Statements
CID11:ID_247698609
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dki-india-ID_247698609
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Concluído
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13 August 2026
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