Congenital disorder of glycosylation, type ie - CISMeF
Congenital disorder of glycosylation, type ieOMIM Phenotype
Preferred Label : Congenital disorder of glycosylation, type ie;
Symbol : CDG1E;
CISMeF acronym : CDG1E;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : CDGIe; Cdg ie;
Description : Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein
biosynthesis that usually cause severe mental and psychomotor retardation. Different
forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of
serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib
(602579).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the catalytic subunit of the dolichyl-phosphate mannosyltransferase
1 gene (DPM1, 603503.0001);
Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type I pattern); Decreased tetrasialotransferrin levels; Increased disialotransferrin and asialotransferrin levels; Increased liver function tests; Increased serum creatine kinase;