D-bifunctional protein deficiency (DBP deficiency) is an inherited metabolic disorder that affects the body’s ability to breakdown fat from the diet. It is caused by low activity levels of the D-bifunctional enzyme found in the peroxisome, a sac-like compartment within the cell where dietary fats are broken down. Without properly functioning DBP enzyme, fatty acids accumulate inside cells leading to organ damage.
Signs and symptoms of the disease may vary based on the activity levels of the DBP enzyme. Most newborns present with characteristic symptoms, which include hypotonia (low muscle tone) and seizures in the first month of life.
Take this test to find out whether you are a genetic carrier of HSD17B4 variants and are at risk of passing it to your children. This is intended to be a carrier screening test for couples who are considering to start a family.
D-bifunctional protein is caused by genetic variation in the <em>HSD17B4</em> gene. These variants impair the function of the DBP protein preventing it from properly breaking down fats from the diet, resulting in a build up of fatty acids (building blocks of fats) in the body.
It is inherited in an autosomal recessive pattern, which means two defective copies of the HSD17B4 gene must be inherited in order for the disease to manifest.
This test looks at two genetic variants of HSD17B4 linked to D-bifunctional protein deficiency.
Understanding your carrier status for these variants will help you understand the risk of passing it to your children.
While this test provides a risk analysis for two variants associated with HSD17B4 complete gene sequence analysis may be necessary to identify additional variants associated with DBP deficiency.
Characteristic symptoms include
- Low muscle tone (hypotonia)
- Seizures in the first month of life
- High forehead
- High roof of mouth
- Enlarged fontanelle
- Widely spaced eyes
- Enlarged liver (hepatomegaly)
- Eye problems
- Progressive hearing loss
- Brain abnormalities
How It Works
Step 1: Sign up for a free Genebase account.
Step 2: Upload your DNA markers to Genebase.
Step 3: Login to your account to access your results when they are ready.