An attenuated, adult case of AADC deficiency demonstrated by protein characterization

An attenuated, adult case of AADC deficiency demonstrated by protein characterization

A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.1040G > A and c.679G > C) in compound heterozygosis, resulting in p.Arg347Gln and p.Glu227Gln amino acid alterations. While p.Arg3...

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Bibliographic Details
Main Authors: Giovanni Bisello, Christiaan G.J. Saris, Rossella Franchini, Marcel M. Verbeek, Michel A.A.P. Willemsen, Massimiliano Perduca, Mariarita Bertoldi
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Aromatic amino acid decarboxylase
AADC deficiency
Pyridoxal 5′-phosphate
Compound heterozygosis
Genotype-phenotype correlation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000247

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