A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.

ABSTRACT: We report a 4 years girl with congenital disorders of glycosylation (CDG) type Ib due to a novel homozygous mutation in MPI gene. She presented with diazoxide-responsive hyperinsulinemic hypoglycemia. CDG should be considered in unexplained hypoglycemia particularly in consanguineous families. Diagnosis enables monitoring/prevention of disease comorbidities and early effective treatment.

SUBMITTER: Deeb A 

PROVIDER: S-EPMC5838283 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature