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

Gucuyener K., Kasapkara C. S., TÜMER L., Verbeek M. M.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, cilt.17, sa.2, ss.234-236, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 2
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4103/0972-2327.132652
  • Dergi Adı: ANNALS OF INDIAN ACADEMY OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.234-236
  • Gazi Üniversitesi Adresli: Evet

Özet

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.