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Up to: Disorder of catecholamine synthesis

Aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

3 trials tagged with this condition →

This condition has no sub-types.