GRACILE Syndrome

Common Name(s)

GRACILE Syndrome

GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream (lactic acidosis) and amino acids in the urine (aminoaciduria). They will also have problems with the flow of bile from the liver (cholestasis) and too much iron in their blood. Affected individuals arenÕt typically born with unique physical features. Although alkali therapy is used as treatment, about half of affected infants do not survive past the first days of life. Those that do survive this period generally do not live past 4 months despite receiving treatment. GRACILE syndrome is caused by a mutation in the BCS1L gene, and it is inherited in an autosomal recessive pattern. The BCS1L gene provides instructions needed by the mitochondria in cells to help produce energy.
 

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Condition Specific Organizations

Following organizations serve the condition "GRACILE Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

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The terms "GRACILE Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
 

Author(s): Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L Hutton, Vijay Kumar, Gregory S Payne, Marja Makarow, Rudy Van Coster, Robert W Taylor, Douglass M Turnbull, Anu Suomalainen, Leena Peltonen

Journal: Am. J. Hum. Genet.. 2002 Oct;71(4):863-76.

 

GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. We ...

Last Updated: 31 Dec 1969

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The terms "GRACILE Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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