Article
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
The Journal of clinical endocrinology and metabolism - 1 Sept 2004
Magge Sheela N, Shyng Show-Ling, MacMullen Courtney, Steinkrauss Linda, Ganguly Arupa, Katz Lorraine E L, Stanley Charles A
Abstract excerpt
Familial leucine-sensitive hypoglycemia of infancy was described in 1956 as a condition in which symptomatic hypoglycemia was provoked by protein meals or the amino acid, leucine. The purpose of this study was to determine the genetic basis for hypoglycemia in a family diagnosed with leucine-sensitive hypoglycemia in 1960. Recently diagnosed family members showed a dominantly transmitted pattern of...
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