title: Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation.
abstract: Aromatic L-amino acid decarboxylase (AADC), a vitamin B6-requiring enzyme that converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Deficiency of this enzyme results in developmental delay, muscular hypotonia, dystonia, involuntary movements, autonomic dysfunction, and oculogyric crises. We now report a 2-year-old Turkish boy with AADC deficiency confirmed by greatly reduced AADC activity in the plasma and by genetic studies. Mutation analysis revealed a homozygous mutation c.208C > T (p. His70Tyr) in exon 3 of the AADC gene which has not been described to date.
authors.affiliation: Department of Pediatric Neurology, Gazi University Hospital, Ankara, Turkey.
authors.forename: Kıvılcım
authors.initials: K
authors.lastname: Gücüyener
authors.affiliation: Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
authors.forename: Ciğdem Seher
authors.initials: CS
authors.lastname: Kasapkara
authors.affiliation: Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
authors.forename: Leyla
authors.initials: L
authors.lastname: Tümer
authors.affiliation: Department of Neurology and Laboratory Medicine, Alzheimer Center Nijmegen, Nijmegen, Netherlands.
authors.forename: Marcel M
authors.initials: MM
authors.lastname: Verbeek
keywords: Aromatic L-amino acid decarboxylase deficiency; case report; novel mutation