GRACILE syndrome is a rare inherited metabolic condition that begins before birth. The acronym GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death, all of which describe the characteristic symptoms of the disease. GRACILE syndrome is caused by reduced activity of the BCS1L protein involved in energy metabolism.
The BCSL1 protein is found in the mitochondria, which are the powerhouses of our cells. It is involved in a multistep process (known as oxidative phosphorylation) that converts energy from food to a form of energy (ATP) that can be used by our cells. People affected with GRACILE syndrome make an abnormal BCS1L protein that is broken down faster than normal. Reduced BCS1L protein levels severely inhibit the amount of energy produced by cells. This particularly affects organs like the kidneys and liver that require large amounts of energy for function.
Take this test to find out if you are a genetic carrier of a BCS1L variant and are at risk of passing it to your children.
GRACILE syndrome is caused by genetic variation in the BCS1L gene. Affected individuals produce a BCS1L protein that is broken down faster than normal, thereby affecting the energy metabolism. Insufficient energy production leads to organ damage, particularly in the organs that require an abundant energy source, such as the liver and kidneys.
GRACILE syndrome is inherited in an autosomal recessive pattern, which means two defective copies of the BCS1L gene must be inherited in order for the disease to manifest.
This test detects a BCS1L genetic variant which causes GRACILE syndrome, and is predominantly found in people of Finnish descent.
- rs28937590 (S78G)
Understanding your carrier status will help you understand the risk of passing a pathogenic variant to your children. While carriers do not show signs and symptoms of GRACILE syndrome, there is a 25% chance that a child will inherit the disease if both parents are carriers.
Characteristic symptoms include:
- Low birth weight
- Failure to thrive
- Excessive iron levels
- Lactic acid accumulation (lactic acidosis)
- Severe kidney problems caused by excess amino acids in the urine (aminoaciduria)
- Reduced bile production (cholestasis) leading to irreversible liver disease
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.