GRACILE syndrome

Definition:

GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. It has been described mostly in newborn infants with parents of Finnish origin. It is caused by mutations in BCS1L. The BCS1L gene encodes a chaperone responsible for assembly of mitochondrial respiratory chain complex III.

References:

[1]. Çiğdem Seher Kasapkara, et al. BCS1L gene mutation causing GRACILE syndrome: case report. Ren Fail. 2014 Jul;36(6):953-4. [Content Brief]

[2]. Ilona Visapää, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76. [Content Brief]

[3]. V Fellman, et al. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet. 1998 Feb 14;351(9101):490-3. [Content Brief]

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