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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib
CDG1B MPI-CDG SLSJ SYNDROME
602579
OMIM = Online Medalian Inheritance of Men
79319
15q24.1
  • mannose
rare
autosomal recessive
mutations in the MPI gene
symptoms
bleeding tendencies, hemorrhages
cirrhosis or fibrosis of liver
diarrhea
edema
enteropathy, protein-loosing
failure to thrive
hepatomegaly (large liver)
hyperinsulinism
hypoglycemia
hypotonia
liver involvement or dysfunction
no clinical signs or symptoms
onset, childhood
thromboembolism
vomiting
laboratory finding
Coagulopathy/Coagulation factors
Albumin decreasedserum
Sodium decreasedserum
Cholesterol decreasedserum
Thrombocytes, Platelets increasedblood
Transferrin abnormalserum
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
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