Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism.
D000591:Amino Acid Isomerases / Q000032:analysis; D000596:Amino Acids / Q000378:metabolism; D000748:Anemia, Macrocytic / Q000378:metabolism*; D001344:Autopsy; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002478:Cells, Cultured; D002648:Child; D003470:Culture Media; D005347:Fibroblasts / Q000378:metabolism; D006710:Homocysteine / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability; D008099:Liver / Q000032:analysis / Q000378:metabolism; D008168:Lung / Q000032:analysis; D008190:Lyases / Q000378:metabolism; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors; D008715:Methionine / Q000378:metabolism; D013154:Spleen / Q000032:analysis; D014805:Vitamin B 12 / Q000378:metabolism*
D000596:Amino Acids; D003470:Culture Media; D008314:Malonates; D006710:Homocysteine; D008715:Methionine; D008190:Lyases; D000591:Amino Acid Isomerases; D014805:Vitamin B 12