A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT

Karaca M., Aslan H.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.84, sa.3, ss.454-456, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 84 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.26650/iuitfd.2020.0040
  • Dergi Adı: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.454-456
  • Anahtar Kelimeler: Glycogen storage disease type 0A, ketotic hypoglycaemia, hyperglycaemia, lactic acidemia, SYNTHASE DEFICIENCY
  • İstanbul Üniversitesi Adresli: Evet

Özet

Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency. Glycogen-storage disease type 0A is characterized by fasting ketotic hypoglycaemia, postprandial hyperglycemia and lactic acidemia without hepatomegaly. In clinical practice, patients may be asymptomatic, or may present with hypoglycemic convulsions, short stature, growth retardation, osteopenia, and rarely symptoms of hyperglycemia. In this article, we present a 6-year-old girl with previous symptoms of hypoglycaemia, and symptoms of hyperglycemia at the time of admission and genetically diagnosed as glycogen storage disease type 0A.