An inborn error of vitamin B12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin. Pathological and neurochemical findings in one case.
D000748:Anemia, Macrocytic / Q000473:pathology; D001284:Atrophy; D001344:Autopsy; D001808:Blood Vessels / Q000473:pathology; D001921:Brain / Q000378:metabolism / Q000473:pathology; D001923:Brain Chemistry; D002554:Cerebrosides / Q000378:metabolism; D002648:Child; D002784:Cholesterol / Q000378:metabolism; D002855:Chromatography, Thin Layer; D003711:Demyelinating Diseases; D004952:Esters; D005227:Fatty Acids / Q000378:metabolism; D005231:Fatty Acids, Unsaturated / Q000378:metabolism; D005260:Female; D005690:Galactose; D005911:Gliosis; D005917:Globus Pallidus / Q000378:metabolism; D006712:Homocystinuria / Q000473:pathology; D006801:Humans; D008314:Malonates / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology*; D010713:Phosphatidylcholines / Q000378:metabolism; D010743:Phospholipids / Q000378:metabolism; D013109:Sphingomyelins / Q000378:metabolism; D013433:Sulfoglycosphingolipids / Q000378:metabolism; D014805:Vitamin B 12 / Q000378:metabolism*
D002554:Cerebrosides; D004952:Esters; D005227:Fatty Acids; D005231:Fatty Acids, Unsaturated; D008314:Malonates; D010713:Phosphatidylcholines; D010743:Phospholipids; D013109:Sphingomyelins; D013433:Sulfoglycosphingolipids; D002784:Cholesterol; D014805:Vitamin B 12; D005690:Galactose