Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia

Zeitschrift für Kinderheilkunde - Tập 135 - Trang 305-312 - 1981
T. Satoh1, K. Narisawa1, Y. Igarashi1, T. Saitoh1, K. Hayasaka1, Y. Ichinohazama1, H. Onodera1, K. Tada1, K. Oohara1,2
1Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
2Pediatric Clinic, Suifu Hospital, Mito, Japan

Tóm tắt

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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