SNP Shot: Genomic Insights

Imerslund-Gräsbeck syndrome is a disorder resulting from a deficiency in vitamin B12 (cobalamin). Its main characteristic is megaloblastic anemia, a type of anemia where red blood cells are fewer than normal and abnormally large. Around half of individuals with this syndrome also experience proteinuria, where there's an elevated amount of protein in their urine. Despite this, kidney function usually remains normal in these individuals.

The syndrome usually manifests during infancy or early childhood. The associated blood abnormalities lead to various symptoms, including failure to thrive (difficulty growing and gaining weight), pallor (pale skin), fatigue (excessive tiredness), and frequent gastrointestinal or respiratory infections. Additionally, some individuals with Imerslund-Gräsbeck syndrome experience mild neurological issues such as hypotonia (weak muscle tone), paresthesia (numbness or tingling in the hands or feet), movement difficulties, developmental delays, or confusion. Infrequently, affected individuals may present with structural abnormalities in the urinary tract, affecting organs like the bladder or ureters.

Inheritance:

Imerslund-Gräsbeck syndrome follows an autosomal recessive inheritance pattern. This means that for an individual to develop the condition, they must inherit a mutated copy of the responsible gene from both parents. The parents, each carrying only one copy of the mutated gene, are typically asymptomatic carriers of the condition.