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: V Engelbrecht, M Rassek, J Huismann, U Wendel
• Journal: AJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) Vol. 18 Issue 3 Pg. 536-9 (Mar 1997) ISSN: 0195-6108 [Print] United States
• PMID: 9090418 (Publication Type: Case Reports, Journal Article)

Chemical References

• Lipotropic Agents
• Homocysteine
• Betaine
• Oxidoreductases Acting on CH-NH Group Donors
• Methylenetetrahydrofolate Reductase (NADPH2)

Topics

• Amino Acid Metabolism, Inborn Errors (diagnosis, genetics, physiopathology)
• Betaine (administration & dosage)
• Brain (drug effects, pathology)
• Brain Diseases, Metabolic (diagnosis, genetics, physiopathology)
• Energy Metabolism (drug effects, physiology)
• Female
• Follow-Up Studies
• Homocysteine (blood)
• Humans
• Infant
• Lipotropic Agents (administration & dosage)
• Magnetic Resonance Imaging
• Magnetic Resonance Spectroscopy
• Methylenetetrahydrofolate Reductase (NADPH2)
• Nerve Fibers, Myelinated (drug effects, pathology)
• Oxidoreductases Acting on CH-NH Group Donors (deficiency)
• Treatment Outcome