Abstract
A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hyperammonemia 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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This investigation was supported by a research grant from the Ministry of Health and Welfare of Japan for the Research of Handicapped Children 1977 and a Research Grant (249018) from the Ministry of Education of Japan
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Matsuda, I., Terashima, T., Yamamoto, J. et al. Methylmalonic acidemia. Eur J Pediatr 128, 181–186 (1978). https://doi.org/10.1007/BF00444303
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DOI: https://doi.org/10.1007/BF00444303