Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.
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.
Walk
D
D
Department of Neurology, University of Illinois, Chicago.
Kang
S S
SS
Horwitz
A
A
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology*; D005260:Female; D006711:Homocystine / Q000097:blood; D006712:Homocystinuria / Q000652:urine; D006801:Humans; D008279:Magnetic Resonance Imaging; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009431:Neural Conduction; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*
D006711:Homocystine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)