MOGS-CDG is a rare genetic disorder which is inherited from both parents. It happens when both copies of MOGSdo not work properly. MOGSgene makes an enzyme which helps cells process sugars that are attached to proteins. The correct processing of the sugars is important for normal bodily function.
If MOGS enzyme does not function as it should, certain sugars are not removed from the proteins, and abnormal proteins build up in the cell. These proteins then do not work normally, which can affect many organs.
To diagnose a patient with MOGS-CDG, some tests can be performed.
Many disorders of glycosylation (CDGs) can be detected with a blood test that looks at a protein called transferrin (TIEF). In some MOGS-CDG patients, this test shows abnormal results.
Another useful laboratory test looks at the presence of a specific sugar compound in the urine, called Glc3Man. This sugar is released from the sugar-coated proteins that build up in the cells. The increase Glc3Man in urine is very specific for this MOGS-CDG and can help a doctor to reach the correct diagnosis.
In most cases, however, the final diagnosis is made through genetic testing, which looks for changes (often referred to as mutations) in the MOGSgene.
The genetic results are usually interpreted together with biochemical test results to confirm the diagnosis.
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