Adipose fatty acid composition in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.
The fatty acid composition of the triglyceride in adipose tissue in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation was analyzed and compared with age-matched controls. The proportions of linoleic acid, linolenic acid and arachidonic acid were decreased to less than half of normal level. There was a decrease in total unsaturated fatty acids and an increase in palmitic acid. These results revealed an undeveloped pattern of fatty acid composition in adipose tissue in the patient.
D000273:Adipose Tissue / Q000032:analysis*; D002675:Child, Preschool; D003579:Cytochrome Reductases / Q000172:deficiency*; D042966:Cytochrome-B(5) Reductase; D005227:Fatty Acids / Q000032:analysis*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism*; D008708:Methemoglobinemia / Q000151:congenital* / Q000378:metabolism
D005227:Fatty Acids; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase