congenital disorder of glycosylation Ib

A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of d

A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.

Signs and symptoms

• Hepatic fibrosis
• Hypotonia
• Cirrhosis
• Hepatomegaly
• Failure to thrive
• Diarrhea
• Vomiting
• Reduced tissue phosphomannose isomerase activity
• Steatorrhea
• Villous atrophy

Also known as: congenital disorder of glycosylation 1b