title: Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.
abstract: Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency may present with variable neurological manifestations. Radiological features include white matter changes (leukoencephalopathy). Clinical, biochemical, and radiological response to treatment may again be variable. Here we present a 12-year follow-up of two siblings on the same treatment regimen, with contrasting long-term findings. The first patient, a female presenting at 15 years, showed a good clinical response, substantial intellectual gain, and complete reversal of leukoencephalopathy. Her brother presented at 13 years 9 months and showed limited clinical and cognitive improvement with persistence of the leukoencephalopathy. Both siblings showed a partial biochemical response to treatment.
authors.affiliation: Child Life and Health, University of Edinburgh, 20 Sylvan Place, Edinburgh, EH9 1UW, UK.
authors.forename: K Kamath
authors.initials: KK
authors.lastname: Tallur
authors.forename: David A
authors.initials: DA
authors.lastname: Johnson
authors.forename: Jean M
authors.initials: JM
authors.lastname: Kirk
authors.forename: Peter A G
authors.initials: PA
authors.lastname: Sandercock
authors.forename: Robert A
authors.initials: RA
authors.lastname: Minns
mesh_terms: D000203:Activities of Daily Living / Q000145:classification; D000293:Adolescent; D000328:Adult; D001622:Betaine / Q000627:therapeutic use; D001921:Brain / Q000187:drug effects / Q000473:pathology; D004359:Drug Therapy, Combination; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use*; D005500:Follow-Up Studies; D006712:Homocystinuria / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D007360:Intelligence / Q000187:drug effects*; D007968:Leukoencephalopathy, Progressive Multifocal / Q000175:diagnosis / Q000188:drug therapy*; D008134:Long-Term Care; D008279:Magnetic Resonance Imaging; D008297:Male; D008715:Methionine / Q000097:blood; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency*; D009460:Neurologic Examination / Q000187:drug effects; D016896:Treatment Outcome
chemical_list: D001622:Betaine; D005492:Folic Acid; D008715:Methionine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)