| Disease Association
|| Defects in ALG6 are the cause of congenital disorder of glycosylation type Ic (CDG-Ic) (MIM:603147); also known as carbohydrate-deficient glycoprotein syndrome V (CDGS type V or CDGS V). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins and are caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol-oligosaccharide used for protein N- glycosylation. CDG-Ic is an autosomal recessive disorder biochemically characterized by an accumulation of dolichyl pyrophosphate-linked Man(9)GlcNAc(2) in the endoplasmic reticulum. Patients have muscular hypotonia, show a delayed statomotor development and are mentally retarded.