GRACILE syndrome
Dernière mise à jour 3 Apr 2025
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GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
Description
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life.
Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Fellman syndrome
Finnish lactic acidosis with hepatic hemosiderosis
Finnish lethal neonatal metabolic syndrome
Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
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Lectures complémentaires et références
- GRACILE syndrome; MedlinePlus, National Library of Medicine.
- Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):444-50. doi: 10.1006/bcmd.2002.0582.
- Kotarsky H, Karikoski R, Morgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman V. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion. 2010 Aug;10(5):497-509. doi: 10.1016/j.mito.2010.05.009. Epub 2010 May 23.
- Visapaa 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. 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. doi: 10.1086/342773. Epub 2002 Sep 5.
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