Summary
Persistent hyperkalaemia was found in a patient with vitamin B12 unresponsive methylmalonic acidaemia associated with hyperuricaemia. At 3 years and 8 months of age, a serum potassium level of 6.8 mmol L−1 was found when blood gas measurement was normal. One year later azotaemia was noted. At the age of 5 years, renal function studies disclosed hyperaldosteronism, decreased creatinine clearance, reduction of the reabsorption of sodium at distal diluting segments and inadequate concentration of urine at the collecting ducts. The reduction of the reabsorption of sodium, which may have resulted in decreased potassium excretion, and the decrease in glomerular filtration rate, together with the superimposed excess intake of potassium, appeared to be responsible for the hyperkalaemia. Dietary potassium restriction was effective in suppressing the hyperkalaemia.
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Batlle, D. C. and Kurtzman, N. A. Syndromes of aldosterone deficiency and excess.Med. Clin. N. Am. 67 (1983) 879–902
Broyer, M., Guesry, P., Burgess, E. A., Charpentier, C. and Lemonnier, A. Acidemie methyl malonique avec nephropathie hyperuricemique.Arch. Franc. Pediatr. 31 (1974) 543–552
Goldfinger, S., Klinenberg, J. R. and Seegmillar, J. E. Renal retention of uric acid induced by infusion of beta-hydroxy butyrate and acetoacetate.N. Engl. J. Med. 272 (1965) 351–355
Gonick, H. C., Kleeman, C. R., Rubini, M. E. and Maxwell, M. H. Functional impairment in chronic renal diseases: III. Studies of potassium excretion.Am. J. Med. Sci. 261 (1971) 281–290
Leaf, A. and Camara, A. A. Renal tubular secretion of potassium in man.J. Clin. Invest. 28 (1949) 1526–1533
Ogihara, T., Linuma, K., Nishi, K., Arakawa, Y., Takagi, A., Kurata, K., Miyai, K. and Kumahara, Y. A non-chromatographic non-extraction radioimmunoassay for serum aldosterone.J. Clin. Endocrinol. Metab. 45 (1977) 726–731
Rodriguez-Soriano, J., Vallo, A., Castillo, G. and Oliveros, R. Renal handling of water and sodium in infancy and childhood: A study using clearance methods during hypotonic saline diuresis.Kidney Int. 20 (1981) 700–704
Rosenberg, L. E. Disorders of propionate and methylmalonate metabolism. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.)The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, 1983, pp. 489–490
Stapleton, F. B., Linshaw, M. A., Hassanein, K. and Gruskin, A. B. Uric acid excretion in normal children.J. Pediatr. 92 (1978) 911–914
Tanaka, K., Hine, D. G., West-Dull, A. and Lynn, T. B. Gas chromatographic methods of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds.Clin. Chem. 26 (1980) 1839–1846
Whelan, D. T., Ryan, E., Spate, M., Morris, M., Hurley, R. M. and Hill, R. Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.Can. Med. Assoc. J. 120 (1979) 1230–1235
Wolff, J. A., Strom, C., Griswold, W., Sweetman, L., Kulovich, S., Prodanos, C. and Nyhan, W. L. Proximal renal tubular acidosis in methylmalonic acidemia.J. Neurogenet. 2 (1985) 31–39
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Morita, J., Ito, Y., Yoshino, M. et al. Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia. J Inherit Metab Dis 12, 89–93 (1989). https://doi.org/10.1007/BF01805536
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DOI: https://doi.org/10.1007/BF01805536