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

Kıvılcım Gücüyener; Ciğdem Seher Kasapkara; Leyla Tümer; Marcel M Verbeek

doi:10.4103/0972-2327.132652

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

Ann Indian Acad Neurol. 2014 Apr;17(2):234-6. doi: 10.4103/0972-2327.132652.

Authors

Kıvılcım Gücüyener¹, Ciğdem Seher Kasapkara², Leyla Tümer², Marcel M Verbeek³

Affiliations

¹ Department of Pediatric Neurology, Gazi University Hospital, Ankara, Turkey.
² Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
³ Department of Neurology and Laboratory Medicine, Alzheimer Center Nijmegen, Nijmegen, Netherlands.

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.

Keywords: Aromatic L-amino acid decarboxylase deficiency; case report; novel mutation.

Publication types

Case Reports