Annals of Indian Academy of Neurology
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Year : 2014  |  Volume : 17  |  Issue : 2  |  Page : 234-236

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

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

Correspondence Address:
Cigdem Seher Kasapkara
Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-2327.132652

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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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