[Methylmalonic aciduria. A case report].
A Black girl aged 19 months presented with vomiting, dehydration and severe acidosis without apparent cause. Further investigation revealed urinary excretion of large amounts of methylmalonic acid. The literature on methylmalonic aciduria is briefly reviewed. Seven possible biochemical defects have been described. Our patient did not improve with vitamin B12 therapy but the response after instituting a low-protein diet was excellent. The condition may be life-threatening if left untreated.
D000138:Acidosis / Q000178:diet therapy; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy*; D004044:Dietary Proteins / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D007223:Infant; D008314:Malonates / Q000652:urine*; D008764:Methylmalonic Acid / Q000652:urine*
D004044:Dietary Proteins; D008314:Malonates; D008764:Methylmalonic Acid
Metielmalonielasidemie. 'n gevalbespreking.