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Reversible white matter lesion in methionine adenosyltransferase I/III deficiency.

Abstract
A 5-year-old boy with methionine adenosyltransferase (MAT) I/III deficiency, under treatment for the tentative diagnosis of homocystinuria, presented with mildly decreased appetite and sleepiness. MR imaging showed abnormal T1 and T2 prolongations and reduced diffusion in the cerebral white matter. Clinical symptoms and MR imaging findings improved after discontinuation of therapy. We speculate that inappropriate treatment might enhance CNS lesions of MAT I/III deficiency by causing a reversible vacuolating myelinopathy.
AuthorsHiroko Tada, Jun-ichi Takanashi, A James Barkovich, Shigenori Yamamoto, Yoichi Kohno
JournalAJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) 2004 Nov-Dec Vol. 25 Issue 10 Pg. 1843-5 ISSN: 0195-6108 [Print] United States
PMID15569761 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Isoenzymes
  • Methionine Adenosyltransferase
  • Cystathionine beta-Synthase
Topics
  • Brain (pathology)
  • Child, Preschool
  • Cystathionine beta-Synthase (deficiency)
  • Diagnostic Errors
  • Homocystinuria (etiology)
  • Humans
  • Isoenzymes (deficiency)
  • Magnetic Resonance Imaging
  • Male
  • Metabolism, Inborn Errors (diagnosis, physiopathology, therapy)
  • Methionine Adenosyltransferase (deficiency)

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