Health Dictionary
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GRACILE syndrome
Introduction
Overview
Overview
GRACILE syndrome is an autosomal recessive genetic disorder, one of the Finnish heritage diseases. It is caused by mutation in BCS1L gene that occurs in 1 out of 1500000 live births.[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.
References
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 (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. Unknown parameter
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]