GRACILE syndrome

GRACILE syndrome
OMIM	603358

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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.

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.