Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations

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Seker-Yilmaz B., Kor D., BULUT F. D., YÜKSEL B., KARABAY BAYAZIT A., TOPALOĞLU A. K., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.4, ss.434-441, 2017 (SCI-Expanded, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.04.010
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.434-441
  • Anahtar Kelimeler: Fanconi-Bickel syndrome, oral glucose tolerance test, hypoglycemia, postprandial hyperglycemia, GLUT2, GENE
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Çukurova Üniversitesi Adresli: Evet

Özet

Fanconi-Bickel syndrome (FBS) is a rare, autosomal recessive disorder of carbohydrate metabolism caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene. Prominent findings are failure to thrive, renal tubular acidosis, hypoglycemia and postprandial hyperglycemia even mimicking diabetes mellitus.