title: Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.
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.
mesh_terms: D000138:Acidosis / Q000150:complications; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy* / Q000188:drug therapy; D002675:Child, Preschool; D003404:Creatinine / Q000652:urine; D004044:Dietary Proteins; D005260:Female; D006801:Humans; D007223:Infant; D007651:Keto Acids / Q000097:blood; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood* / Q000652:urine; D014805:Vitamin B 12 / Q000627:therapeutic use
chemical_list: D004044:Dietary Proteins; D007651:Keto Acids; D008314:Malonates; D008764:Methylmalonic Acid; D003404:Creatinine; D014805:Vitamin B 12