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Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency
1Department of Paediatrics, Central Hospital Skövde, Sweden.
Insights
This case study highlights a 7.5-year-old girl with 5,10-methylenetetrahydrofolate reductase deficiency treated with betaine. Despite treatment, she experienced developmental delays and unexplained weight gain, indicating complex metabolic challenges.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare genetic disorder affecting folate metabolism.
- Early diagnosis and treatment are crucial for managing potential neurological and developmental complications.
Observation:
- A 7.5-year-old girl with MTHFR deficiency presented with microcephaly, developmental delay, and vision impairment.
- She received betaine treatment from infancy, with occasional folic acid supplementation.
- An unexplained extreme increase in appetite and weight gain emerged around age 4.
Findings:
- Despite betaine therapy, plasma homocysteine levels remained moderately elevated.
- Plasma methionine levels were in the lower normal range.
- Brain MRI showed no abnormalities, and overt folate deficiency signs were absent.
Implications:
- This case underscores the complex and variable clinical presentation of MTHFR deficiency, even with treatment.
- Unexplained weight gain and appetite changes in treated MTHFR deficiency warrant further investigation.
- Optimal management strategies for MTHFR deficiency may require individualized approaches beyond standard protocols.
Abstract:
A girl aged 7.5 years with deficiency of 5,10-methylenetetrahydrofolate reductase was treated from early infancy with betaine, 3-6 g daily. She has slight microcephaly, moderate developmental delay, and impaired vision but there have been no obvious signs of folate deficiency. From 4 years of age, she developed an unexplained extreme increase in appetite and weight. Recent magnetic resonance imaging of her brain was normal. The plasma methionine levels have been normal but in the lower range, and the total plasma homocysteine concentrations have been moderately increased (54 to 85 mumol/l) without obvious correlation with the different betaine doses given. Folic acid has sometimes been added.