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 1 out of 1,500,000 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

↑ 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.

Disorders of TCA and ETC

Citric acid cycle	Pyruvate dehydrogenase deficiency Fumarase deficiency

Electron transport chain	Coenzyme Q10 deficiency Björnstad syndrome/GRACILE syndrome Leigh's disease

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