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Methionine synthase deficiency without megaloblastic anaemia
E A Kvittingen1, S Spangen, J Lindemans
1Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, Norway.
European Journal of Pediatrics
|February 7, 1998
Summary
This study details a child with methionine synthase deficiency, a rare genetic disorder. The MTHFR C677T polymorphism appears to protect against anemia, despite severe neurological symptoms.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Neurology
Background:
- Neonatal homocystinuria and hypomethioninemia are rare metabolic disorders.
- Methionine synthase deficiency can lead to severe neurological impairment.
- Understanding genetic interactions is crucial for diagnosing and managing these conditions.
Observation:
- A patient presented with neonatal homocystinuria, hypomethioninemia, and significant neurological symptoms, including developmental delay and seizures.
- Fibroblast activity of methionine synthase was severely deficient, with low methylcobalamin formation.
- The patient's cells complemented with cblE but not cblG patient cells, indicating a specific genetic defect.
Findings:
- Despite severe methionine synthase deficiency, the patient did not develop megaloblastic anemia.
- The patient is homozygous for the C677T polymorphism in the 5,10 methylenetetrahydrofolate reductase (MTHFR) gene.
- This MTHFR genotype may prevent folate trapping, thus averting anemia.
Implications:
- The MTHFR C677T polymorphism may protect against anemia in cases of methionine synthase deficiency.
- Homozygosity for MTHFR C677T could explain the dissociation between hematological and neurological disease in vitamin B12 deficiency.
- Further research into gene-nutrient interactions is warranted for metabolic disorders.