Tag: Hereditary folate malabsorption

Hereditary Folate Malabsorption (HFM) is a rare genetic disorder, with only about 60 cases reported worldwide, that prevents the body from properly absorbing and transporting folate. This inherited condition manifests early in life and is distinctly different from folate deficiency caused by a poor diet.

Affecting less than 1 in 1 million people, hereditary folate malabsorption is a very rare genetic disorder, meaning that for most individuals, true malabsorption of folate is tied to specific underlying conditions rather than a congenital defect.

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by a defective gene (SLC46A1) that impairs folate transport into the body and brain. Early diagnosis and targeted treatment with reduced folates, such as folinic acid, are critical for correcting both systemic and neurological folate deficiencies. Proper management is essential for preventing severe symptoms, especially in infants who cannot absorb folate from milk or formula after birth.

Research suggests that up to 60% of the population may carry a common gene variant that affects how they process folic acid, the synthetic form of vitamin B9. This compromised metabolic process is one key reason certain individuals can't digest folic acid properly, leading to potential health issues.

Reports show hereditary folate malabsorption is an exceptionally rare inherited disorder, with only about 60 individuals reported worldwide. However, yes, there are people that can't process folic acid effectively due to several genetic and medical reasons that affect absorption and metabolism.

According to the CDC, mandatory fortification of grains with folic acid has significantly reduced the prevalence of folate deficiency in many countries. However, for individuals with malabsorption disorders, this is not enough, and targeted treatments are essential to address the root cause and correct the resulting deficiency. These treatments primarily focus on bypassing the compromised digestive system to ensure adequate nutrient levels are achieved, and can also include treating the underlying causes.