Gracile syndrome

Overview

What is GRACILE Syndrome?

GRACILE syndrome is a type of genetic disease known as a metabolic disease. This means that GRACILE syndrome affects the way the body makes energy. It is caused by a change (sometimes called a mutation) in the BSC1L gene and is inherited in an autosomal recessive manner. Almost all cases of GRACILE syndrome have occurred in Finland. “GRACILE” stands for growth retardation (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactic acidosis (L), and early death (E). Babies with this condition are born much smaller than usual, have kidney and liver damage, and have too much lactic acid and iron in their blood. Most infants with GRACILE syndrome pass away after a few days, but they may live for a few months. Unfortunately, there is no cure for GRACILE syndrome. Usually, a medical geneticist or other neonatal specialist will diagnose GRACILE syndrome in the neonatal period. To find a medical geneticist, patients can search the American College of Medical Geneticists "Find a Member" site.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/gracile-syndrome/overview/9469 • DATE UPDATED: 2016-06-07

References

GRACILE syndrome. NIH/GARD.

GRACILE syndrome. Online Mendelian Inheritance in Man. 7 Sep. 2010. Web June 1016

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