What are glucokinase deficiency?

Answer 1

Glucokinase deficiency is a rare genetic disorder that affects the enzyme glucokinase, which plays a crucial role in glucose metabolism by facilitating the conversion of glucose to glucose-6-phosphate in the liver and pancreas. This deficiency leads to impaired insulin secretion and results in a form of Diabetes known as maturity-onset diabetes of the young (MODY). Patients may experience episodes of hyperglycemia and hypoglycemia, particularly during fasting or illness, due to the enzyme's inability to effectively regulate blood sugar levels. Management typically involves dietary modifications and monitoring blood glucose levels.