PMM2-congenital disorder of glycosylation (PMM2-CDG) is a rare metabolic disease that affects many parts of the body, particularly the nervous system. It is caused by reduced activity of the phosphomannomutase 2 (PMM2) enzyme. The PMM2 enzyme is involved in a process known as glycosylation, where sugar molecules are attached to proteins and fats.
PMM2-CDG is most common in people of European ancestry, specifically the Dutch and the Danish. Signs and symptoms vary widely from mild to severe, even when affected people are related.
Take this test to find out if you are a genetic carrier for PMM2-CDG and are at risk of passing a PMM2 variant to your children.
PMM2-CDG is caused by genetic variation in the PMM2 gene, resulting in reduced PMM2 enzyme activity. This affects the glycosylation of many different proteins in multiple tissues and organs.
PMM2-CDG is inherited in an autosomal recessive pattern, which means two defective copies of the PMM2 gene must be inherited in order for the disease to manifest.
This test detects two genetic variants in the PMM2 gene which cause PMM-CDG.
- rs28936415 (Arg141His)
- rs8033870 (Phe119Leu)
Understanding your carrier status for a PMM2 variant will help you understand the risk of passing this variant to your children.
Infantile Multisystem Stage
- Feeding issues
- Developmental delays
- Underdevelopment of parts of the brain
- Muscle weakness
- Failure to thrive
- Distinct physical abnormalities present at birth
Childhood Ataxia-Intellectual Disability Stage
- Intellectual disability
- Vision problems
- Speech problems
- Difficulty feeding and walking
- Bleeding issues due to low clotting protein
Adult Stable Disability Stage
- Abnormally curved spine and other skeletal abnormalities
- Lower sensation and weakness in arms and legs
- Lower muscle coordination
- Joint abnormalities
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.