Catalog

Tyrosine hydroxylase deficiency

No MMS code

Link to WHO Definition

Tyrosine hydroxylase deficiency – http://id.who.int/icd/entity/247698609

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.