Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12
Hsia, Y.E.; Lilljeqvist, A.C.; Rosenberg, L.E.
Pediatrics 46(4): 497-507
1970
ISSN/ISBN: 0031-4005 PMID: 5503685 Document Number: 20709
In a boy with vitamin B-12-dependent methylmalonic aciduria a diet containing 5 g protein per kg bodyweight daily gave transient ketoacidosis, longchain ketonuria and increased methylmalonic acid in urine. Loads of isoleucine, valine, methionine or threonine gave equimolar 1000 micro g increases in methyl-malonic acid in urine. Valine and leucine also precipitated mild ketoacidosis and long-chain ketonuria.