Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry

Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the <i>DDC</i> gene, leading to a deficit of AADC, a pyridoxal 5′-phosphate requiring enzyme that catalyzes the decarboxylation of L-Dopa and L-5-hydroxytrypt...

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Bibliographic Details
Main Authors: Riccardo Montioli, Carla Borri Voltattorni
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/22/6/3146