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Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels
Author(s) -
Franco L. Patricia,
Anderson Jada,
Okoh James,
Pomper Martin G.,
Braverman Nancy,
Barker Peter B.
Publication year - 2006
Publication title -
journal of magnetic resonance imaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.563
H-Index - 160
eISSN - 1522-2586
pISSN - 1053-1807
DOI - 10.1002/jmri.20515
Subject(s) - hyperhomocysteinemia , hyperintensity , methionine , homocystinuria , betaine , choline , homocysteine , medicine , magnetic resonance imaging , vitamin b12 , cystathionine beta synthase , methionine synthase , pathology , nuclear medicine , radiology , chemistry , biochemistry , amino acid
Proton magnetic resonance spectroscopy imaging (MRSI) and serial MRI were performed on a 10‐year‐old girl with B6 unresponsive cystathionine B‐synthase (CBS) deficiency who developed high methionine levels while on betaine therapy. At presentation, T2‐weighted sequences showed diffuse white matter (WM) hyperintensity and sulcal effacement, while MRSI metabolite concentrations were normal. Four months later, after the betaine therapy was discontinued and a methionine‐restricted diet with vitamin B6, B12, and folate supplementation was initiated, blood methionine levels and MRI findings returned to normal. Normal MRSI at presentation was predictive of a positive outcome despite the markedly abnormal initial MRI results. J. Magn. Reson. Imaging 2006. © 2006 Wiley‐Liss, Inc.