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.
(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
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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Specialty: Endocrinology, Clinical Laboratory