Fast Facts: Aromatic L-Amino Decarboxylase Deficiency
Heiko Brennenstuhl
Fast Facts: Aromatic L-Amino Decarboxylase Deficiency
Heiko Brennenstuhl
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Omschrijving
First identified in 1990, aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare, debilitating, inherited neurological disorder. The disease typically manifests in the first year of life and, although some patients have relatively mild phenotypes, most have severe, debilitating, sometimes life-threatening, phenotypes.