Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders

Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders

Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the <i>DDC</i> gene. Since the enzyme is involved in the biosynthesis of serotonin and dopamine, its deficiency determines the lack...

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Bibliographic Details
Main Authors: Sandro Santa Paola, Francesco Domenico Di Blasi, Eugenia Borgione, Mariangela Lo Giudice, Marika Giuliano, Rosa Pettinato, Vincenzo Di Stefano, Filippo Brighina, Antonino Lupica, Carmela Scuderi
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Genes
Subjects:
AADCD
aromatic L-amino acid decarboxylase deficiency
neuromuscular defect
cognitive deficit
Sicily
Online Access:https://www.mdpi.com/2073-4425/15/1/134

Internet

https://www.mdpi.com/2073-4425/15/1/134

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