Hereditary Folate Malabsorption is a rare recessive disorder that interferes with the body’s ability to absorb certain B vitamins, known as folates, from food. Since Folates are essential for the functioning of many cells in the body like the production of DNA, Hereditary Folate Malabsorption can lead to severe body damage. The common symptoms of this disease are loss of appetite, lack of energy, pale skin, headache, numbness in the hands and feet.
HOW IS HEREDITARY FOLATE MALABSORPTION DIAGNOSED?
The diagnosis for Hereditary Folate Malabsorption is done through the assessment of the deficiency and one of the tools used is proton-coupled folate transporter. Through this tool, the absorption of folates in the intestine is evaluated. As mentioned, the symptoms are also obvious indications and the General Physicians or the Pediatrician will be able to diagnose the condition.
HOW IS HEREDITARY FOLATE MALABSORPTION TREATED?
Hereditary Folate Malabsorption is a rare disorder without a definite treatment so far. Oral administration of folates may help maintain folate blood levels. This corrects the anemia, GI signs and immune deficiency.
DID YOU KNOW?
In most cases, the chances of babies infected with the same surviving or living a full life are next to impossible.