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A case of genetic hypoglycemia in an adult: A Molecular Approach

ABSTRACT: Context: We present a case of a young adult with GCK mutation who had neonatal hypoglycaemia, re-emerging with hypoglycaemia later in life. Mechanistic insight is gained from detailed clinical, cellular and genomic analysis. Conclusion: This case highlights the variable phenotype of GCK mutations. In depth molecular analyses in the islets has revealed possible mechanisms for nesidioblastosis and insulin hypersecretion.

ORGANISM(S): Homo sapiens

PROVIDER: GSE193693 | GEO | 2022/03/12

REPOSITORIES: GEO

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