Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

作者：Gucuyener Kivilcim; Kasapkara Cigdem Seher^*; Tumer Leyla; Verbeek Marcel M

来源：Annals of Indian Academy of Neurology, 2014, 17(2): 234-236.

DOI：10.4103/0972-2327.132652

• Aromatic L-amino acid decarboxylase deficiency
• case report
• novel mutation

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.