Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.
D001710:Biotin / Q000627:therapeutic use*; D019735:Carbon-Carbon Ligases; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D007223:Infant; D008025:Ligases / Q000172:deficiency*
D001710:Biotin; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase