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Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation
Kıvılcım Gücüyener1, Ciğdem Seher Kasapkara2, Leyla Tümer2
1Department of Pediatric Neurology, Gazi University Hospital, Ankara, Turkey.
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.
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