Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

Katipoglu N., Karapinar T. H., DEMİR K., Koker S. A., Nalbantoglu O., Ay Y., ...Daha Fazla

ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.115, sa.3, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 115 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.5546/aap.2017.eng.e153
  • Dergi Adı: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: diabetes mellitus, hearing loss, sensorineural, anemia, megaloblastic, thiamine, treatment, TRANSPORTER, DIAGNOSIS, GENE
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.