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.[1]
| GRACILE syndrome | |
|---|---|
| Other names | Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death (GRACILE) syndrome, Finnish lethal neonatal metabolic syndrome (FLNMS), lactic acidosis, Finnish, with hepatic hemosiderosis, Fellman syndrome |
 | |
| This condition is inherited in an autosomal recessive manner. | |
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.[1]
References
- Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L (October 2002). "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L". Am. J. Hum. Genet. 71 (4): 863–76. doi:10.1086/342773. PMC 378542. PMID 12215968.CS1 maint: uses authors parameter (link)