Familial leucine-sensitive hypoglycemia involves release of insulin from beta cells of the pancreas following exposure to leucine. Several different genetic mutations may be involved.


General features:

(1) familial pattern of inheritance

(2) recurrent episodes of hypoglycemia following a high-protein meal or exposure to leucine

(3) increase in serum insulin concentration during the hypoglycemic episodes


A number of different mutations may be involved:

(1) hyperinsulinism-hyperammonemia syndrome associated with a mutation in GLUD1 affecting glutamine dehydrogenase

(2) mutation of the beta-cell sulfonylurea receptor

(3) other


Management may involve:

(1) low protein diet

(2) therapy with diazoxide (a drug used in hypertensive emergencies that inhibits release of insulin from the beta cells)


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