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Genetic Heterogeneity Correlated with Phenotypic Variability in Congenital Hyperinsulinism Caused by Mutation in ABCC8 Gene Associated with Early‐Onset Persistent Neonatal Hypoglycemia

2024-03-29

Abstract excerpt

Abstract: Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations in the ABCC8 and KCNJ11 genes that encode the ATP-sensitive potassium channel (KATP). We present the correlation between genetic heterogeneity and the variab...

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Literature Corpus work: e891a96c-ea81-592b-8086-161a42daba53
DOI: 10.20944/preprints202403.1825.v1

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