Article
A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia.
Gene - 20 Aug 2023
Shah Idrees A, Rashid Rabiya, Bhat Abid, Rashid Haroon, Bashir Rohina, Asrar Mir M, Wani Imtiyaz A, Charoo Bashir Ahmad, Radha Venkatesan, Mohan V, Ganie Mohd Ashraf
Abstract excerpt
The hypoglycemia induced by insulin hypersecretion in congenital hyperinsulinemia (CHI), a rare life-threatening condition can lead to irreversible brain damage in neonates. Inactivating mutations in the genes encoding KATP channel (ABCC8 and KCNJ11) as well as HNF4A, HNF1A, HADH, UCP2, and activating mutations in GLUD1, GCK, and SLC16A1 have been identified as causal. A 3-month-old male infant presenting...
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