Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.
D000293:Adolescent; D002648:Child; D005260:Female; D006712:Homocystinuria / Q000150:complications / Q000235:genetics*; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D007223:Infant; D008297:Male; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000652:urine; D008764:Methylmalonic Acid / Q000652:urine*; D009154:Mutation; D019965:Neurocognitive Disorders / Q000209:etiology; D013118:Spinal Cord Diseases / Q000209:etiology; D014805:Vitamin B 12 / Q000235:genetics / Q000378:metabolism*
D008314:Malonates; D008764:Methylmalonic Acid; D014805:Vitamin B 12; D006879:Hydroxocobalamin