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Congenital folate malabsorption
Insights
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.
- 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.
Abstract:
A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.