Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)

Bayram E., Topcu Y., Karakaya P., YİŞ U., Cakmakci H., Ichida K., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.17, sa.1, ss.1-6, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 17 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.ejpn.2012.10.003
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1-6
  • Anahtar Kelimeler: Molybdenum cofactor deficiency, Cystic encephalomalacia, Seizures, Feeding difficulty, Facial dysmorphism, Genes of molybdenum cofactor synthesis, MUTATION, FEATURES, BRAIN, ACID
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties. Most of the patients are misdiagnosed as hypoxic ischemic encephalopathy. The majority of patients have mutations in the MOCS1 and MOCS2 genes. Although the therapeutic treatment strategies have not been improved, genetic analysis is essential to elucidate the disease. Here, we report a review of 12 patients with Molybdenum cofactor deficiency reported from Turkey. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.