Jornal de Síndromes Genéticas e Terapia Gênica
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Genetic Disorders Leading to Hypoglycaemia

Suresh Chandran, Fabian Yap and Khalid Hussain

Hypoglycaemia is common in clinical practice and can be a manifestation of many underlying conditions. It is a biochemical finding and not a diagnosis. Therefore an understanding of the molecular mechanisms that lead to hypoglycaemia is important. At a genetic level, hypoglycaemia can be due to many different genetic disorders both metabolic and endocrine. Some of these genetic disorders present with severe and profound hypoglycaemia in the newborn period yet others can be mild and subtle. Recent advances in the fields of genomics and molecular biology have begun to give fundamental novel insights into the mechanisms regulating blood glucose levels. This state of the art review article will provide an in-depth knowledge into the genetic mechanisms that lead to hypoglycaemia.