Article
Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children.
Scientific reports - 7 Feb 2020
Alhaidan Yazeid, Larsen Martin J, Schou Anders Jørgen, Stenlid Maria H, Al Balwi Mohammed A, Christesen Henrik Thybo, Brusgaard Klaus
Abstract excerpt
Unexplained or idiopathic ketotic hypoglycemia (KH) is the most common type of hypoglycemia in children. The diagnosis is based on the exclusion of routine hormonal and metabolic causes of hypoglycemia. We aimed to identify novel genes that cause KH, as this may lead to a more targeted treatment. Deep phenotyping of ten preschool age at onset KH patients (boys, n = 5; girls, n = 5) was performed followed by trio...
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