Endocrinology Medical News about Hyperinsulinaemic hypoglycaemia

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Hyperinsulinaemic hypoglycaemia associated with a heterozygous missense mutation of R1174W in the insulin receptor (IR) gene
Clinical Endocrinology, 10/15/09

Huang Z et al. – R1174 of the IR gene may be a candidate locus for hyperinsulinaemic hypoglycaemia. Clinical heterogeneity is not uncommon within families as well as among mutation carriers with different amino acid replacements. More pedigrees and long–term follow–up data are needed to document the evolution of beta–cell function and clarify the role of R1174 on insulin resistance and hyperinsulinaemic hypoglycaemia.

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