GRACILE syndrome
| GRACILE syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 603358 |
GRACILE syndrome is a very rare 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 is an acronym for growth retardation, amino aciduria (amino acids in the urine), cholestasis, iron overload, lactic acidosis, and early death. Other names for this syndrome include Finnish lethal neonatal metabolic syndrome (FLNMS); lactic acidosis, Finnish, with hepatic hemosiderosis; and Fellman syndrome.
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
- 1 2 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.
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