SNP Shot: Genomic Insights

Glutamate formiminotransferase deficiency is a genetic condition passed down through families that impacts both physical and cognitive growth. The condition presents in two forms, differentiated by the intensity of the symptoms experienced.

Individuals with the less severe version of glutamate formiminotransferase deficiency exhibit slight delays in their physical and cognitive milestones, and may experience mild intellectual disabilities. A key indicator is the presence of elevated levels of formiminoglutamate (FIGLU) in their urine.

Those with the severe form of the disorder experience significant intellectual disability and substantial delays in motor skill development, affecting abilities like sitting, standing, and walking. Besides having elevated FIGLU in their urine, they also show increased levels of specific B vitamins (folates) in their blood.

Megaloblastic anemia is another hallmark of the severe form of glutamate formiminotransferase deficiency. This type of anemia is defined by a reduced number of red blood cells (anemia), coupled with abnormally large red blood cells (megaloblastic). Symptoms of megaloblastic anemia can include reduced appetite, fatigue, headaches, pallor, and tingling or numbness in the extremities.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that for an individual to be affected, they must inherit a mutated copy of the responsible gene from both parents. The parents, each carrying only one mutated copy, are typically asymptomatic carriers.