Tyrosine hydroxylase deficiency (Q86668): Difference between revisions

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Latest revision as of 12:07, 15 August 2026

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.