Abstract
The biochemical and therapeutic responses to dietary therapy were studied in a 25-month-old girl and a 1-month-old girl with methylmalonic acidemia (MMA-emia), which was unresponsive to vitamin B12.
The minimum daily intake of protein which patients could tolerate and display a good development was between 1.0 and 1.2 g per kg body weight. Supplementation with amino acid mixture devoid of toxic amino acids was required to prevent protein malnutrition when daily protein intake was restricted to 0.6 g per kg body weight. Caloric intake should be sufficient, not only to promote growth but also to prevent a rise in MMA level, especially when a patient has ketoacidosis.
It was found that MMA excretion per mg creatinine in random urine specimens correlated significantly with serum MMA and twenty four-hour output of MMA per kg body weight. Therefore measurement of MMA in a single urine specimen is useful for evaluating the in vivo accumulation of MMA.
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References
Food and Nutrition Board, National Research Council (1974) Recommended Dietary Allowances. 8th revised ed. National Academy of Sciences, Washington, DC
Frenkel EP, Kitchens RL (1975) A simplified and rapid quantitative assay for propionic and methylmalonic acids in urine. J Lab Clin Med 85:487–496
Ghisolfi J, Charlet P, Ser N, Salvayre R, Thouvenot JP, Duole C (1978) Plasma free amino acids in normal children and in patients with proteinocaloric malnutrition: Fasting and Infection. Pediatr Res 12:912–917
Holt LE Jr (1968) Some problems in dietary amino acid requirements. Amer J Clin Nutr 21:367–375
Hsia YE, Lilljeqvist A, Rosenberg LE (1970) Vitamin B12-dependent methylmalonic aciduria. Amino acid toxicity, long chain ketonuria and protective effect of vitamin B12. Pediatrics 46:497–507
Lindblad B, Lindblad BoS, Olin P, Svenberg B, Zetterstrom R (1968) Methylmalonic acidemia—A disorder associated with acidosis, hyperglycinemia and hyperlactatemia. Acta Pediat Scand 57:417–424
Morrow G, Barness LA, Auerbach VH, Di George AM, Ando T, Nyhan WL (1969) Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediat 74: 680–690
Nakamura E, Rosenberg LE, Tanaka K (1976) Micro-determination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography. Use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia. Clin Chim Acta 68:127–140
Narisawa K, Saito T, Hisa S, Suzuki H, Hayasaka K, Arakawa T, Konno K, Tsuchida S, Tsuchiya Y (1977) Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia. Tohoku J exp Med 123:1–9
Nyhan WL, Fawcett N, Ando T, Rennert OM, Julius RL (1973) Response to dietary therapy in B12 unresponsive methylmalonic aciduria. Pediatrics 51:539–548
Oberholzer VG, Levin B, Burgess EA, Young WF (1967) Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Childh 42:492–504
Packman S, Mahoney MJ, Tanaka K, Hsia YE (1978) Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency. J Pediatr 92:769–771
Shapiro LJ, Bocian ME, Raijman L, Cederbaum SD, Shaw KNF (1978) Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia. Activity of urea cycle enzymes. J Pediatr 92:986–988
Srikantia SG, Pargaonkar VU, Reddy V (1965) Studies on creatinine metabolism in Kwashiorkor and marasmus. Amer J Clin Nutr 16:436–439
Whelan DT, Ryan E, Spate M, Morris M, Hurley M, Hill R (1979) Methylmalonic acidemia. 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy. Can Med Assoc J 120:1230–1234
Wilcken K, Kilhan HA, Faull K (1977) Methylmalonic aciduria. A variant form of methylmalonyl coenzyme A apomutase deficiency. J Pediat 91:428–430
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Satoh, T., Narisawa, K., Igarashi, Y. et al. Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia. Eur J Pediatr 135, 305–312 (1981). https://doi.org/10.1007/BF00442109
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DOI: https://doi.org/10.1007/BF00442109