congenital disorder of glycosylation type IIp

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.

Signs and symptoms

• Hepatic steatosis
• Decreased circulating ceruloplasmin concentration
• Elevated circulating aspartate aminotransferase concentration
• Elevated circulating creatine kinase activity
• Elevated circulating alkaline phosphatase concentration
• Copper accumulation in liver
• Decreased circulating copper concentration
• Type II transferrin isoform profile
• Abnormal protein N-linked glycosylation
• Elevated circulating alanine aminotransferase concentration

Also known as: CDG IIp; CDG syndrome type IIp; CDG2P; CDGIIp; Carbohydrate deficient glycoprotein syndrome type IIp