" /> Congenital disorder of glycosylation, type ie - CISMeF





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;

Prefixed ID : #608799;

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30/07/2025


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