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Congenital folate malabsorption.

L Corbeel, G Van den Berghe, J Jaeken

    European Journal of Pediatrics
    |March 1, 1985
    PubMed
    Summary
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    A rare folate transport defect caused severe health issues in a Turkish girl. Supplementation with methionine, vitamin B12, and folic acid improved neurological symptoms, highlighting a novel treatment approach for folate metabolism disorders.

    Area of Science:

    • Pediatric Neurology
    • Nutritional Neuroscience
    • Metabolic Disorders

    Background:

    • Folate deficiency can cause severe neurological and developmental issues in infants.
    • Congenital folate malabsorption is a rare condition affecting nutrient transport.
    • Early diagnosis and intervention are crucial for managing metabolic disorders in children.

    Observation:

    • A Turkish infant presented with fever, diarrhea, infections, failure to thrive, and megaloblastic anemia at 5 months.
    • Profound folate deficiency was confirmed in plasma and cerebrospinal fluid (CSF).
    • Initial treatment with folic acid resolved anemia, diarrhea, and infections but not neurological symptoms.

    Findings:

    • Oral folic acid failed to prevent convulsions, mental retardation, and cerebral calcifications.

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  • Defective folate transport across the gut and blood-brain barrier was identified.
  • Combined therapy with methionine, vitamin B12, and folic acid significantly improved convulsions.

    • Implications:

    • This case highlights a specific defect in folate transport impacting both intestinal absorption and brain penetration.
    • The successful use of methionine, vitamin B12, and folic acid suggests a therapeutic strategy for similar transport defects.
    • Understanding folate transport mechanisms is vital for treating rare metabolic and neurological conditions in pediatrics.