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Congenital malabsorption of folic acid: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Congenital malabsorption of folic acid is a rare disease that is inherited in an autosomal recessive type. The transport of folic acid is disrupted not only in the intestine, but also the penetration of the microelement into the cerebrospinal fluid is impeded.
ICD-10 code
D52. Folic deficiency anemia.
Symptoms
In the first months of life, there is diarrhea, physical retardation, stomatitis, neurological symptoms (convulsions). The most important symptom is megaloblastic anemia.
Diagnostics
Determine the content of folate in the erythrocyte mass or CSF. It is possible to determine the absorption of folic acid after a load in a dose of 5 to 100 mg. If necessary, conduct a study of bone marrow punctate. Occasionally, urinary excretion of orotic acid and formiminoglutamate are detected.
Treatment
The substitution treatment is to prescribe folic acid in a daily dose of up to 100 mg, the response to administering the drug inside is variable (some patients have seizures). If ineffective, the parenteral route of administration is indicated. There are data on the effectiveness of folic acid preparations.
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