Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.
D000138:Acidosis / Q000209:etiology*; D000592:Amino Acid Metabolism, Inborn Errors; D002855:Chromatography, Thin Layer; D003065:Coenzyme A / Q000378:metabolism; D004044:Dietary Proteins; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D007535:Isomerases / Q000378:metabolism; D007657:Ketone Bodies / Q000652:urine*; D008025:Ligases / Q000378:metabolism; D008297:Male; D008314:Malonates / Q000652:urine*; D014805:Vitamin B 12 / Q000627:therapeutic use
D004044:Dietary Proteins; D007657:Ketone Bodies; D008314:Malonates; D007535:Isomerases; D008025:Ligases; D014805:Vitamin B 12; D003065:Coenzyme A; D005998:Glycine