Only one patient has currently been identified with CAMLG-CDG. This individual has a predominantly neurological phenotype with severe developmental delay, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a type 2 serum transferrin isoelectric focusing pattern was identified, accompanied by abnormal serum apoC-III glycoforms, indicating a combined N- and O-glycosylation defect.
CAMLG