Lipids of myelin, white matter and gray matter in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.
The lipid classes and fatty acid compositions of myelin, white matter and gray matter were analyzed in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation. When compared with normal data, the percentage of 24:1 was considerably decreased and diminished unsaturation was observed in cerebrosides, whereas the sum of 24:0 and 24:1 was the same as in normals. The ratio of hydroxy fatty acids to total fatty acids in cerebrosides was low. The contents of cholesterol and phospholipids in white matter were reduced to 80% of the normal, whereas cerebroside was reduced to 48% of the normal.
D001923:Brain Chemistry; D002554:Cerebrosides / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000032:analysis; D003579:Cytochrome Reductases / Q000172:deficiency*; D042966:Cytochrome-B(5) Reductase; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism*; D008055:Lipids / Q000032:analysis*; D008297:Male; D008708:Methemoglobinemia / Q000378:metabolism*; D009186:Myelin Sheath / Q000032:analysis*; D010743:Phospholipids / Q000032:analysis; D012016:Reference Values; D012794:Sialic Acids / Q000032:analysis; D013107:Sphingolipids / Q000032:analysis
D002554:Cerebrosides; D008055:Lipids; D010743:Phospholipids; D012794:Sialic Acids; D013107:Sphingolipids; D002784:Cholesterol; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase