Catalog

Aromatic L-amino acid decarboxylase deficiency

No MMS code

Link to WHO Definition

Aromatic L-amino acid decarboxylase deficiency – http://id.who.int/icd/entity/1134258245

This is a condition presenting between 2-18 months of age with hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Symptoms reflect the combined lack of serotonin and catecholamines and diagnosis is established by finding marked elevation of L-dopa, 5-hydroxytryptamine and 3-O-methyldopa in the spinal fluid, plasma and urine.