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GRACILE syndrome is a fatal inherited disorder caused by a mutation in a gene necessary for providing cells with energy. “GRACILE” is an acronym for symptoms caused by the disease:
Growth Retardation The baby is born significantly smaller than normal.
Aminoaciduria There are increased levels of amino acids in the child’s urine.
Cholestasis The flow of bile from the liver is blocked.
Iron overload The body does not metabolize iron properly, leading to excess levels, particularly in the liver.
Lactic acidosis Lactic acid builds up in the body, causing the blood to become too acidic.
Early death Half of babies with GRACILE syndrome die within 24 hours. Virtually none live beyond the age of four months.
GRACILE syndrome has only been reported in Finland. Here, researchers estimate that 1 in 47,000 babies are affected, meaning that roughly 1 in 110 Finnish people are carriers of the genetic mutation. There have been reports of several infants in the United Kingdom and Turkey with similar but not identical symptoms. It is not known whether this represents the same disease.
There is no effective treatment for GRACILE syndrome. Experimental treatments to reduce acidity and/or iron levels in the infants’ blood have not been shown to extend life beyond several months.
About half of infants with GRACILE syndrome die within the first few days of life. Even with the best possible treatment, nearly all will die within four months.
Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health.
A database of human genes and genetic disorders authored by staff at Johns Hopkins University and published by the National Institutes of Health. It contains fairly scientific language.