Summary
The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100). Biochemical control of MSUD focussed on plasma leucine levels while measurement of plasma ammonia levels was used in MMA. From 0 to 2.75 years both patients exhibited five episodes of toxicity. In each case toxicity was associated with dietary indiscretion or infection. The quantity of protein tolerated was always less in the MMA patient and was approximately 1 g/kg/day. From 1 to 2.75 years each patient's growth velocity approximated their predicted growth channel except during periods of toxicity. In both cases leucine intake, which gave normal growth without toxicity, was always judged to be less than the FAO/WHO recommendations. The BCAA intake of the MMA patient was remarkably stable from 0.5 to 2.75 years and at 2 years of age isoleucine and valine intake approximated the FAO/WHO recommendations. From 2 to 2.75 years BCAA intake (mg/kg/day) of the MSUD patient was less than that of the MMA patient and well below FAO/WHO recommendations. Neuromotor development in both patients is normal.
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Chow, C. L., Reade, T. M. and Scriver, C. R. Outcome of early and long-term management of classical Maple Syrup Urine Disease.Pediatrics 68 (1981) 865–862
Committee for Improvement of Hereditary Disease Management. Management of Maple Syrup Urine Disease in Canada.Can. Med. Assoc. J. 115 (1975) 1005–1009
Committee on Nutrition. Special diets for infants with inborn errors of amino acid metabolism.Pediatrics 57 (1976) 783–791
Coude, F. X., Ogier H., Grimber, G., Parvy, P., Pham Dinh, D., Charpentier, C. and Saudubray, J. M. Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia.Pediatrics 69 (1982) 115–117
Dancis, J., Hutzler, J., Snyderman, S. E. and Cox, R. P. Enzyme activity in classical and variant forms of maple syrup urine disease.J. Pediatr. 81 (1972) 312–20
Fomon, S. J., Owen, G. M. and Thomas, L. N. Methionine, valine and isoleucine requirements during infancy.Am. J. Dis. Child. 108 (1964) 487–493
Gruskay, J. A. and Rosenberg, L. E. Inhibition of hepatic mitochondrial carbamyl phosphate synthetase (CPSI) by acyl CoA esters: Possible mechanism of hyperammonemia in the organic acidemias.Pediatr. Res. 13 (1979) 475
Harnill, P. V. V., Drizd, T. A., Johnson, C. L., Reed, R. B. and Roche, A. F. NCHS growth curves for children birth-18 months.Vital and Health Statistics Series 11, No. 165, DREW Publ. — No. (PHS) (1978), 78–1650
Joint FAO/WHOad hoc Expert Committee. Energy and protein requirements.Technical Report Series, No. 724, World Health Organization, Geneva, 1985
Kaplan, S. A. (ed.).Clinical Pediatrics and Adolescent Endocrinology, W.B. Saunders, Philadelphia, 1982, pp. 1–48
Kindt, E. and Halborsen, S. The need of essential amino acid in children: an evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.Am. J. Clin. Nutr. 33 (1980) 279–286
Matsui, S. M., Mahoney, M. J. and Rosenberg, L. E. The natural history of inherited methylmalonic acidemias.N. Engl. J. Med. 308 (1983) 857–61
Nakagawa, I., Takahashi, T. and Suzuki, T. Amino acid requirements of children. Isoleucine.J. Nutr. 73 (1961) 186–190
Nakagawa, I., Takahashi, T., Suzuki, T. and Kobayashi, K. Amino acid requirements of children. Minimal needs of threonine, valine and phenylalanine based on nitrogen balanced method.J. Nutr. 86 (1965) 333
Ney, D., Bay, C., Saudubray, J. M., Ketts, D. G., Kulovich, S., Sweetman, L. and Nyhan, W. L. An evaluation of protein requirements in methylmalonic acidaemia.J. Inher. Metab. Dis. 8 (1985) 132–142
Nyhan, L., Fawatt, N., Ando, T., Rennert, M. and Julius, R. L. Response to dietary therapy in B12 unresponsive methylmalonic acidemia.Pediatrics 51 (1973) 539–548
Packman, S., Mahoney, M. J., Tanaka, H. and Hsia, Y. E. Severe hyperammonemia in a newborn infant with methylmalonyl CoA mutase deficiency.J. Pediatr. 92 (1978) 769–771
Parsons, H. G., Wood, M. M. and Pencharz, P. B. Diurnal variation in urine [15N] urea content, estimates of whole body protein turnover, and isotope recycling in healthy mealfed children with cystic fibrosis.Can. J. Physiol. Pharmacol. 61 (1983) 72–80
Parsons, H. G., Fung, E. and Snyder, F. F. Branched-chain α-keto acids for the diagnosis of maple syrup urine disease.N. Engl. J. Med. 316 (1986) 951
Ruch, T. and Kerr, D. Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease.Am. J. Clin. Nutr. 35 (1982) 217–228
Satoh, T., Narisawa, K., Igarashi, Y., Saitoh, T., Hayasaka, K., Ichinohazama, Y., Onodera, H., Tada, K. and Oohara, K. Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic aciduria.Eur. J. Pediatr. 135 (1981) 305–312
Shapiro, L. J., Bocian, M. E., Raijam, L., Cederbaum, S. D., Shaw, K. N. F. Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia activity of urea cycle enzymes.J. Pediatr. 92 (1978) 986–988
Snyderman, S. E. The amino acid requirements of the infant. In: Nyhan, W. L. (ed.)Heritable Disorders of Amino Acid Metabolism, John Wiley, New York, 1974, pp. 641–651
Snyderman, S. E., Holt, L. E. Jr, Smellie, F., Boyer, A. and Westhall, R. G. The essential amino acid requirements of infancy. Valine.Am. J. Dis. Child. 97 (1959) 186–191
Snyderman, S. E., Roitman, E. L., Boyer, A. and Holt, L. E. Jr. The essential amino acid requirement of infants. Leucine.Am. J. Dis. Child. 102 (1961) 157–162
Snyderman, S. E., Boyer, A., Norton, P. M., Roitman, E. and Holt, L. E. Jr. Essential amino acid requirements of infancy. Isoleucine.Am. J. Clin. Nutr. 15 (1964) 313–321
Wendel, U., Wentrup, H. and Rudiger, H. W. Maple syrup urine disease: analysis of branched chain keto acid decarboxylation in cultured fibroblasts.Pediatr. Res. 9 (1975) 709–17
Whelan, D. T., Ryan, E., Spate, M., Morris, M., Hurley, M. and Hill, R. Methylmalonic acidemia. 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.Can. Med. Assoc. J. 120 (1979) 1230–1234
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Parsons, H.G., Carter, R.J., Unrath, M. et al. Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. J Inherit Metab Dis 13, 125–136 (1990). https://doi.org/10.1007/BF01799675
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DOI: https://doi.org/10.1007/BF01799675