GRACILE syndrome

GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage diseases. It is caused by mutation in BCS1L gene that occurs in at least 1 out of 47,000 live births in Finnish people.

GRACILE is an acronym for growth retardation, aminoaciduria (amino acids in the urine), cholestasis, iron overload, lactic acidosis and early death.

Cause

Diagnosis
The liver histology shows microvesicular steatosis and cholestasis with abundant iron accumulation in hepatocytes and Kupffer cells. The liver iron content slightly decreases with age, concomitantly with increasing liver fibrosis and cirrhosis.
Abnormal transaminases and coagulation are noted.

Prognosis 
One Finnish study which followed 25 cases from 18 families found that half the infants died within 3 days of birth and the other half died before 4 months of age.

References

External links 

Category:Rare syndromes
Category:TCA and ETC metabolism disorders