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Application of NMR spectroscopy to monitoring MELAS treatment: A case report
Author(s) -
Möller Harald E.,
Wiedermann Dirk,
Kurlemann Gerhard,
Hilbich Thorsten,
Schuierer Gerhard
Publication year - 2002
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10084
Subject(s) - phosphocreatine , creatine , lactic acidosis , mitochondrial myopathy , medicine , creatine kinase , melas syndrome , taurine , intracellular ph , endocrinology , muscle biopsy , skeletal muscle , encephalopathy , acidosis , myopathy , chemistry , nuclear magnetic resonance spectroscopy , biochemistry , biopsy , energy metabolism , intracellular , amino acid , organic chemistry , mitochondrial dna , gene
1 H magnetic resonance spectroscopy (MRS) of the brain and 31 P MRS and saturation transfer of resting skeletal muscle were used to investigate intracellular metabolites and fluxes through the creatine kinase (CK) reaction in a patient with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Acute cortical lesions were characterized by severely elevated lactate levels and reduced concentrations of N ‐acetylaspartyl compounds, glutamate, and myo‐inositol. Similar but less extreme alterations were also observed in gray matter regions that appeared normal on magnetic resonance images. Investigation of the gastrocnemius muscle at rest demonstrated a reduced phosphocreatine level, elevated concentrations of inorganic phosphate and free adenosine 5′‐diphosphate, and an abnormally low phosphorylation potential. Besides a moderately increased muscular phosphocreatine concentration, none of the metabolic disturbances detected on MRS improved with oral creatine supplementation. Forward and reverse fluxes through the CK reaction did not significantly change upon creatine treatment. Follow‐up MRS investigations may thus provide objective markers of treatment response in vivo without the hazards or inconvenience of biopsy. © 2002 Wiley Periodicals, Inc. Muscle Nerve 25: 000–000, 2002