CDG1B
Congenital disorder of glycosylation type Ib (CDG Ib, CDG1B) is caused by mutation in the gene encoding mannosephosphate isomerase (MPI) (MIM.154550). Autosomal recessive.
Synopsis
congenital hyperinsulinism (hyperinsulinaemic hypoglycaemia) (10484808, 12872847)
hepatic fibrosis
failure to thrive
hepatomegaly
hepatic fibrosis
cirrhosis
hepatic failure
vomiting
diarrhea
villous atrophy
lymphangiectasia
protein-losing enteropathy
hypotonia
hyperinsulinemic hypoglycemia
anti-thrombin III deficiency
thrombosis
factor XI deficiency
bleeding episodes
Abnormal isoelectric focusing of serum transferrin, type I pattern
Phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver
Hypoalbuminemia
Onset of symptoms 2-12 months
Responsive to oral mannose therapy
Etiology
phosphomannose isomerase deficiency