GRACILE Syndrome (Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, Early death)
Summary
GRACILE syndrome is a severe mitochondrial disorder where the BCS1L protein — required for assembly of complex III of the mitochondrial respiratory chain — is deficient. The name is an acronym describing its features: Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death.
Practical takeaway
This is primarily relevant if your partner is Finnish. Carrier frequency in Finland is approximately 1 in 50. A carrier test can determine partner status. Realised does not calculate reproductive risk or advise on reproductive decisions.
Evidence detail
What Carrier Status Means For You
You are not affected. One working copy of BCS1L is sufficient. Standard 25/50/25 recessive inheritance applies.
Population Context
GRACILE syndrome is part of the Finnish disease heritage — a group of approximately 40 genetic conditions enriched in the Finnish population through founder effects. The S78G variant is almost exclusively found in Finns. The condition was first described in Finland in 2002.
Limitations
23andMe tests 1 BCS1L variant. Coverage is limited to the Finnish founder mutation. Other BCS1L variants cause different clinical phenotypes (including Björnstad syndrome and complex III deficiency). Comprehensive screening recommended for non-Finnish individuals.