Mannosyltransferase 1 deficiency (Q94039): Difference between revisions

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ik is characterised by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations (hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe infections) may also be present. It has been described in four boys, three of whom died within the first year of life. The syndrome is associated with mutations in the ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase.