Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.

Narisawa, Kuniaki; Saito, Takashi; Hisa, Shizue; Suzuki, Hiroyuki; Hayasaka, Kazuki

doi:10.1620/tjem.123.1

Cited by 4 publications

(1 citation statement)

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“…Gas chromatographic analyses revealed an increase in MMA both in blood and urine. Methylmalonyl-CoA mutase activity of leukocytes from the patient was found to be defective (Narisawa et al 1977). Vitamin B~2 was ineffective both in vitro and in vivo.…”

Section: Case Reportsmentioning

confidence: 99%

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

et al. 1981

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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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Section: Case Reportsmentioning

confidence: 99%