SNP Shot: Genomic Insights

Hereditary folate malabsorption is a condition that disrupts the body's ability to properly absorb folates, a type of B vitamin, from food. Folates are crucial for various cellular processes, including the creation of DNA and RNA.

Babies born with this disorder initially have sufficient folate levels because they receive these vitamins from their mother during pregnancy. However, signs and symptoms typically appear within the first few months as their ability to absorb folate from food is impaired.

Infants with hereditary folate malabsorption may experience feeding problems, diarrhea, and a failure to thrive, meaning they don't gain weight or grow as expected. They often develop megaloblastic anemia, a blood disorder characterized by a low red blood cell count (anemia) with abnormally large red blood cells (megaloblastic). Symptoms of megaloblastic anemia can include reduced appetite, fatigue, headaches, pale skin, and tingling or numbness in the extremities. These individuals may also have leukopenia, a deficiency in white blood cells, making them more prone to infections, and thrombocytopenia, a low platelet count, leading to easy bruising and bleeding.

Some affected infants may exhibit neurological issues such as developmental delays and seizures. If left untreated, individuals can develop intellectual disability and ataxia, a lack of coordination.

Inheritance:

Hereditary folate malabsorption is an autosomal recessive condition. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Parents who each carry one copy of the mutated gene usually do not show any signs or symptoms of the condition themselves.