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Glucokinase activating mutation causing hypoglycaemia diagnosed late in adult who fasts for Ramadhan.

Wann Jia LohLily Mae DacayClara Si Hua TanSu Fen AngFabian YapSu Chi LimJoan Khoo
Published in: Endocrinology, diabetes & metabolism case reports (2021)
Consider genetic causes of endogenous hyperinsulinism hypoglycaemia in adulthood, especially when imaging is uninformative. Late presentation of activating mutation of GCK can occur because of hypoglycaemia unawareness. Long-acting somatostatin analogue may be useful for the treatment of activating mutation of GCK causing hypoglycaemia. Depending on the glucose level when the blood was taken, and the threshold of glucose-stimulated insulin release (GSIR), the serum insulin and C-peptide levels may be raised (hyperinsulinaemic) or low (hypoinsulinaemic) in patients with activating mutation of GCK. Glucagon may be useful to hasten the process of unmasking the low insulin level during hypoglycaemia below the GSIR level of which insulin released is suppressed.
Keyphrases
  • type diabetes
  • glycemic control
  • signaling pathway
  • blood glucose
  • high resolution
  • depressive symptoms
  • blood pressure
  • genome wide
  • case report
  • mass spectrometry
  • photodynamic therapy
  • copy number
  • skeletal muscle