Management

Although monosaccharide or cofactor supplementation has been shown to be effective in glycosylation and clinical symptoms, CDGs lack specific therapeutic approaches.  

Currently, there's no effective treatment for MAN1B1-CDG. Supportive therapy includes occupational therapy, physical therapy, and speech therapy. Several supportive care measures and treatment options can significantly improve a child's quality of life and manage symptoms.  For some children with feeding difficulties due to poor oral motor skills, placing a nasogastric or gastrostomy tube may be necessary. Consultation with a hematologist is crucial to assess the coagulation status. Orthopedic management involves physical medicine management, wheelchairs, transfer devices, and physical therapy. Surgical treatment of kyphoscoliosis may be needed. Thrombolytic and anticoagulant therapy is needed in case of stroke.  

Translational balancing, which manipulates protein synthesis in the endoplasmic reticulum to compensate for impaired glycosylation by using certain agents has been tried in the treatment of several CDGs. Disulfiram, which is an acetaldehyde dehydrogenase inhibitor, is used for translational balancing that inhibits protein synthesis while extending glycosylation chains. Although MAN1B1 patients tolerated disulfiram therapy, it was ineffective in improving the transferrin glycosylation profile.