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Other Names for this Disease
- Fellman syndrome
- Finnish lactic acidosis with hepatic hemosiderosis
- Finnish lethal neonatal metabolic syndrome
- Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death
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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 aren’t 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.
Last updated: 7/23/2012
- Visapää I, Fellman V, Vesa J, et al. GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L. Am J Hum Gen. 2002; 4:863-76. http://www.ncbi.nlm.nih.gov/pubmed/12215968. Accessed 7/23/2012.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss GRACILE syndrome. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss GRACILE syndrome. Click on the link to view a sample search on this topic.