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

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. Diagn...

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Detalles Bibliográficos
Autores principales: Deeb, Asma, Al Amoodi, Abdulla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838283/
https://www.ncbi.nlm.nih.gov/pubmed/29531722
http://dx.doi.org/10.1002/ccr3.1387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838283/
https://www.ncbi.nlm.nih.gov/pubmed/29531722
http://dx.doi.org/10.1002/ccr3.1387

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