Congenital disorder of glycosylation (MPI-related)

Congenital disorders of glycosylation (CDGs) are a group of disorders that make it harder for a person to make certain proteins in the body called glycoproteins. CDG type Ib (CDG-Ib) is caused by changes in the MPI gene. CDG-Ib is a rare condition that mostly affected the gastrointestines. Symptoms of the condition include diarrhea, vomiting, gastrointestinal bleeding, liver disease, bleeding disorder, low blood sugar, and thrombosis. Unlike other CDGs, neurological function is spared. Treatment with oral mannose improves the clinical course of CDG-Ib patients.

Quick facts about Congenital disorder of glycosylation (MPI-related)
Genes: MPI

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is Congenital disorder of glycosylation (MPI-related) inherited?

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Congenital disorder of glycosylation (MPI-related), but there's a total 301 conditions that can be tested.

Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for Congenital disorder of glycosylation (MPI-related) before or early in pregnancy?

The biggest benefit of screening for Congenital disorder of glycosylation (MPI-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

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