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Methylmalonic acidemia.

I Matsuda·T Terashima·J Yamamoto·I Akaboshi·S Shinozuka·S Hattori·N Nagata·Y Oka
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Abstract

A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration. The patient showed favorable growth and development when kept on a low isoleucine, methionine, threonine and valine diet. In vitro studies using a lymphoid cell line derived from the patient showed a deficiency of methylmalonyl-CoA carbonyl-mutase.

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AcidosisAmino Acid Metabolism, Inborn ErrorsAmmoniaFemaleGlycineHumansHypoglycemiaInfantIsomerasesMalonatesMethylmalonic AcidMethylmalonyl-CoA MutaseUric AcidCase ReportsJournal Article

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BibTeXRIS

I Matsuda, T Terashima, J Yamamoto, I Akaboshi, S Shinozuka, S Hattori, N Nagata, Y Oka. 1978-07-03. Methylmalonic acidemia.. https://doi.org/10.1007/bf00444303

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PubMed1979

Studies of acidosis in the ischaemic heart by phosphorus nuclear magnetic resonance.

1. Phosphorus-nuclear-magnetic-resonance measurements were made on perfused rat hearts at 37 degrees C. 2. With the improved sensitivity obtained by using a wide-bore 4.3 T superconducting magnet, spectra could be recorded in 1 min. 3. The concentrations of ATP, phosphocreatine and Pi and, from the position of the Pi resonance, the intracellular pH (pHi) were measured under a variety of conditions. 4. In a normal perfused heart pHi = 7.05 +/- 0.02 (mean +/- S.E.M. for seven hearts). 5. During global ischaemia pHi drops to 6.2 +/- 0.06 (mean +/- S.E.M.) in 13 min in a pseudoexponential decay with a rate constant of 0.25 min-1. 6. The relation between glycogen content and acidosis in ischaemia is studied in glycogen-depleted hearts. 7. Perfusion of hearts with a buffer containing 100 mM-Hepes before ischaemia gives a significant protective effect on the ischaemic myocardium. Intracellular pH and ATP and phosphocreatine concentrations decline more slowly under these conditions and metabolic recovery is observed on reperfusion after 30min of ischaemia at 37 degrees C. 8. The relation between acidosis and the export of protons is discussed and the significance of glycogenolysis in ischaemic acid production is evaluated.

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