Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome
01 Pubblicazione su rivista
Mastrangelo Mario, Manti Filippo, Patanè Luisa, Ferrari Stefania, Carducci Carla, Carducci Claudia, Mangili Giovanna, Leuzzi Vincenzo
DOI: 10.1002/mdc3.12622
ISSN: 2330-1619
Aromatic L-amino acid decarboxylase (AADC) deficiency is a
rare inherited disorder of biogenic amine metabolism presenting
with developmental delay, hypokinetic movement disorders,
hypotonia, and autonomic dysfunctions.