GRACILE syndrome

GRACILE syndrome is a rare, inherited mitochondrial disorder that affects growth and metabolism. The condition is noted for a set of features including fetal growth restriction, problems with the metabolism of amino acids (aminoaciduria), issues with the liver such as cholestasis, iron overload, and a buildup of lactic acid leading to lactic acidosis. These signs are often associated with early death, which is why the condition is considered severe. The syndrome is identified by the combination of these symptoms. The characteristic signs are summarized by the term GRACILE, with each letter standing for an important clinical feature. Information provided here is based on recognized sources such as OMIM and Orphanet which help in understanding this condition at a basic level.

Common symptoms seen in people with GRACILE syndrome include fetal growth restriction, aminoaciduria (the presence of amino acids in urine), liver problems such as cholestasis, iron overload, and lactic acidosis. These features contribute to the severity of the condition and are generally apparent from early in life.

GRACILE syndrome is caused by genetic changes that affect mitochondrial function. The condition is inherited and has been linked to mutations in the BCS1L gene. This gene is important for normal cell metabolism, and changes in it disrupt the way cells produce energy.

Information about treatment is currently limited for this condition.

GRACILE syndrome is a severe condition that is associated with early death. The outlook for people with this disorder is challenging due to its impact on essential body functions from a very early stage in life.

Information about research is currently limited for this condition. Ongoing studies in mitochondrial disorders and genetic causes may provide further insights into GRACILE syndrome in the future.