GRACILE Syndrome

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GRACILE Syndrome is a severe inherited metabolic disorder whose name is an acronym for its key features: Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death. It is one of the "Finnish heritage diseases," meaning it is significantly more common in the Finnish population due to founder effects.

The condition is caused by a defect in complex III of the mitochondrial respiratory chain, which impairs the cell's ability to produce energy. This affects multiple organ systems, with the liver being particularly impacted. Affected infants are born small for their gestational age and have serious metabolic problems from birth.

Symptoms appear immediately after birth and include severe lactic acidosis (buildup of lactic acid in the body), liver dysfunction with cholestasis (impaired bile flow), iron overload in the liver and other tissues, kidney problems with amino acids spilling into the urine, and profound growth failure. Unfortunately, the condition is almost always fatal in the first months of life.

GRACILE syndrome is caused by mutations in the BCS1L gene, which is essential for mitochondrial function. The condition is inherited in an autosomal recessive pattern. In Finland, the carrier frequency is approximately 1 in 100. While there is currently no effective treatment, genetic testing can identify carriers and is important for family planning.

NutraHacker examines the following gene related to GRACILE Syndrome:

BCS1L

For more information about your own genetic profile as related to GRACILE Syndrome, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.