<unk>  is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in<unk> . The clinical symptoms in<unk>  are caused by deficient activity of the enzyme mannose phosphate isomerase. Clinically, the most common symptoms of<unk>  are chronic diarrhea, failure to thrive, protein-losing enteropathy, and coagulopathy.<unk>  differs from most other described glycosylation disorders due to its lack of central nervous system involvement, and because it has treatment options besides supportive care. Supplementation with oral mannose has been shown to improve most symptoms of the disease. If left untreated,<unk>  can be fatal.<unk>  was previously known as<unk> -IB. The disorder was first described clinically in 1986, and the underlying genetic defect was identified in 1998.
MPI-CDG
TA-CD
SCAR-Fc
DPT-MPH
Metab-L
IMEP 
TIME-ITEM
IVX-411