SNP Shot: Genomic Insights

GRACILE syndrome is a serious condition present from before birth, characterized by its defining features, which give the syndrome its name: Growth Retardation, Aminoaciduria, Cholestasis, Iron Load, Lactic Acidosis, and Early death.

Individuals with GRACILE syndrome experience slowed growth while still in the womb (intrauterine growth retardation), resulting in newborns who are smaller than normal and struggle to grow and gain weight after birth (failure to thrive). A key feature is the accumulation of excess iron in the liver, likely beginning prenatally. While iron levels may improve somewhat after birth, they generally remain high. Shortly after birth, infants develop lactic acidosis, a dangerous buildup of lactic acid in the body. They also experience kidney dysfunction, leading to aminoaciduria, an excess of amino acids in the urine. Cholestasis, a reduced capacity to produce and release bile, is also present, ultimately leading to irreversible liver cirrhosis within the first few months of life.

Due to the severity of the health issues associated with GRACILE syndrome, infants with this condition have a very short life expectancy, with many dying within days of birth and most not surviving beyond a few months.

Inheritance:

GRACILE syndrome is inherited in an autosomal recessive manner. This means that for a child to develop the condition, they must inherit a mutated copy of the responsible gene from both parents. Parents who each carry only one copy of the mutated gene typically do not exhibit any signs or symptoms of the syndrome themselves.