Full Description
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.
Timely and accurate diagnosis is vital for patients to benefit from
emerging treatments to prevent neurological damage, especially given
the availability of gene therapy.
This book is intended to help all clinicians, but in particular
neonatologists, pediatricians, and pediatric neurologists, become
more familiar with AADC deficiency, including the diagnostic and
therapeutic options for practicing physicians so that patients can
receive the best possible clinical care.
