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Congenital folic acid absorption disorder: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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Congenital malabsorption of folic acid is a rare disease inherited in an autosomal recessive manner. Not only is folic acid transport impaired in the intestine, but the microelement's penetration into the cerebrospinal fluid is also impeded.
ICD-10 code
D52. Folate deficiency anemia.
Symptoms
In the first months of life, diarrhea, delayed physical development, stomatitis, neurological symptoms (convulsions) occur. The most important symptom is megaloblastic anemia.
Diagnostics
Folate content in red blood cell mass or cerebrospinal fluid is determined. It is possible to determine folic acid absorption after a load in a dose of 5 to 100 mg. If necessary, a bone marrow puncture is examined. Sometimes excretion of orotic acid and formiminoglutamate with urine is detected.
Treatment
Replacement therapy consists of prescribing folic acid in a daily dose of up to 100 mg; the response to oral administration of the drug is variable (in some patients, seizures increase). If ineffective, parenteral administration is indicated. There is data on the effectiveness of folinic acid preparations.
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