1. Aromatic L-Amino acid decarboxylase deficiency : A new case from Turkey with a novel mutation.
- Author
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Gücüyener, Kıvılcım, Kasapkara, Çiğdem Seher, Tümer, Leyla, and Verbeek, Marcel M.
- Subjects
DIAGNOSIS of deficiency diseases ,AMINO acids ,BROMOCRIPTINE ,DEFICIENCY diseases ,ENZYMES ,FOLINIC acid ,MELATONIN ,MONOAMINE oxidase inhibitors ,MUSCLE hypotonia ,GENETIC mutation ,VITAMIN B6 ,WEIGHT loss - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2014
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