1/2. Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.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.- - - - - - - - - - ranking = 1keywords = malnutrition (Clic here for more details about this article) |
2/2. Neurological disturbances and hyperdynamic shock in a patient with esophagocoloplasty.A 39-year-old man, with no history of alcohol intake, who had had an esophago-ileo-colo-gastroplasty with ileotransversostomy, developed diplopia, seizures, metabolic acidosis, and cardiac failure and finally refractory hyperdynamic shock. He died 20 h after admission to our intensive care unit from cardiocirculatory collapse. Postmortem results revealed low erythrocyte transketolase activity, which was increased by 22% by in vitro addition of thiamine diphosphate (TDP effect). Cerebral pathology showed the alterations of Wernicke's encephalopathy. We discuss the possible mechanisms of fatal cardiovascular collapse and the unusual presentation of a case without a history of alcoholic intake or clinical malnutrition.- - - - - - - - - - ranking = 1keywords = malnutrition (Clic here for more details about this article) |