Hypoglycemia in Maple Syrup Urine Disease

HYPOGLYCEMIA associated with maple syrup urine disease has been observed by MacKenzie and Woolf,¹ Silberman, et al,² Lonsdale and Barber,³ and Menkes (oral communication, 1966). Several investigators have speculated as to whether the mechanism resembles that of leucine sensitive hypoglycemia as originally described by Cochrane.⁴ These reports and our observations of hypoglycemia in two patients with maple syrup urine disease led to our investigations of carbohydrate metabolism in this disorder.

Report of Cases  Maple syrup urine disease has been recognized in four patients cared for at Childrens Hospital of Los Angeles during the past seven years. These children had vastly different modes of presentation and can be briefly characterized. The youngest and most critically ill was a 15-day-old boy admitted in 1966; he had a negative family history and appeared normal at birth. From 5 to 15 days of age, vomiting, lethargy, dehydration, marked respiratory distress,