An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

ABSTRACT:

Background

Hypoketotic hypoglycaemia with suppressed plasma fatty acids and detectable insulin suggests congenital hyperinsulinism (CHI). Severe hypoketotic hypoglycaemia mimicking hyperinsulinism but without detectable insulin has recently been described in syndromic individuals with mosaic genetic activation of post-receptor insulin signalling. We set out to expand understanding of this entity focusing on metabolic phenotypes.

Methods

Metabolic profiling, candidate gene and exome sequencing were performed in six infants with hypoketotic, hypoinsulinaemic hypoglycaemia, with or without syndromic features. Additional signalling studies were carried out in dermal fibroblasts from two individuals.

Results

Two infants had no syndromic features. One was mistakenly diagnos

SUBMITTER: Welters A 

PROVIDER: S-EPMC10652530 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature