| CASE REPORT |
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| Year : 2014 | Volume
: 17
| Issue : 2 | Page : 234-236 |
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Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation
Kivilcim Gucuyener1, Cigdem Seher Kasapkara2, Leyla Tumer2, Marcel M. Verbeek3
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
Turkey
 Source of Support: None, Conflict of Interest: None  | Check |
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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