A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.
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ABSTRACT:
SUBMITTER: Deeb A
PROVIDER: S-EPMC5838283 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Publications
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.
Deeb Asma A Al Amoodi Abdulla A
Clinical case reports 20180125 3
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. ...[more]
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