title: MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency.
abstract: MR imaging showed severe atrophy and large areas without myelination in the brain of a girl with methylenetetrahydrofolate reductase deficiency. Proton MR spectroscopy revealed mild signal reduction of N-acetylaspartate. After treatment with betaine, a second MR imaging study revealed a decrease in the size of the hypomyelinated zones that was paralleled by improved clinical status and laboratory findings.
authors.affiliation: Institute of Diagnostic Radiology, Heinrich-Heine University Düsseldorf, Germany.
authors.forename: V
authors.initials: V
authors.lastname: Engelbrecht
authors.forename: M
authors.initials: M
authors.lastname: Rassek
authors.forename: J
authors.initials: J
authors.lastname: Huismann
authors.forename: U
authors.initials: U
authors.lastname: Wendel
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D001622:Betaine / Q000008:administration & dosage; D001921:Brain / Q000187:drug effects / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004734:Energy Metabolism / Q000187:drug effects / Q000502:physiology*; D005260:Female; D005500:Follow-Up Studies; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007223:Infant; D008082:Lipotropic Agents / Q000008:administration & dosage; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009413:Nerve Fibers, Myelinated / Q000187:drug effects / Q000473:pathology; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*; D016896:Treatment Outcome
chemical_list: D008082:Lipotropic Agents; D006710:Homocysteine; D001622:Betaine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)