Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.
case_report · Level V
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Abstract
We describe a patient with methylenetetrahydrofolate reductase (MTHFR) deficiency in whom clinical and electrophysiologic fluctuations paralleled exacerbations of hyperhomocyst(e)inemia. MRI demonstrated abnormalities characteristic of a leukodystrophy.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- Brain
- Brain Diseases, Metabolic
- Neural Conduction
- Oxidoreductases Acting on CH-NH Group Donors