CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib (MPI)

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib (MPI)?

Accepted Answer

rare
autosomal recessive
mutations in the MPI gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ib; Phosphomannose-Isomerase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 602579

Question 4

Which enzymes are involved?

Accepted Answer

Mannose-6-phosphate isomerase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib (MPI)
Synonym	CDG1B; MPI-CDG; SLSJ SYNDROME
OMIM	602579 OMIM = Online Mendelian Inheritance of Men
Orphanet	79319
Protein (UniProt)	Mannose-6-phosphate isomerase
ExPASy	5.3.1.8
Gene locus	15q24.1
ICD	E77.8
Summary	rare autosomal recessive mutations in the MPI gene
Laboratory findings	Albumin dec (serum) Cholesterol dec (serum) D-Glucose normal/dec (serum) IEF of serum transferrin, type 1 pattern (serum) Sodium dec (serum) Thrombocytes, Platelets inc (blood) Transferrin (serum)
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 clinical symptoms (probably) onset, childhood thromboembolism vomiting