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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib (MPI)
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
Coagulopathy/Coagulation factors
diarrhea
edema
enteropathy, protein-loosing
failure to thrive
hepatomegaly (large liver)
hyperinsulinism
hypoglycemia
hypotonia
liver involvement or dysfunction
no consistent clinical signs or symptoms
onset, childhood
thromboembolism
vomiting
laboratory finding
Albumin decreasedserum
Sodium decreasedserum
Cholesterol decreasedserum
Thrombocytes, Platelets increasedblood
Transferrin abnormalserum
IEF of serum transferrin, type 1 pattern abnormalserum
D-Glucose mmol/lserum
Literature
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