Hepatic storage of bis(monoacylglycerol) phosphate without concomitant storage of sphingomyelin in a 72-year-old patient with a partial deficiency of sphingomyelinase.
A 72-year-old patient with marked splenomegaly and low sphingomyelinase (6% of lowest control value) in peripheral blood leukocytes is described. Much higher but variable residual sphingomyelinase activity was observed in cultured skin fibroblasts (40-67% of lowest control value); reduced activity was also found in a liver biopsy sample. Excess storage of sphingomyelin was not observed in a liver biopsy; instead, a lipid tentatively identified as bis(monoacylglycerol) phosphate was present in amounts at least 20 times greater than in age-matched control livers. The biochemical relationship of this patient to patients with sphingomyelin storage disease (Niemann-Pick disease) and phospholipidosis Type II is discussed.
D000368:Aged; D003937:Diagnosis, Differential; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000378:metabolism* / Q000648:ultrastructure; D008246:Lysophospholipids; D008297:Male; D050178:Monoglycerides; D009542:Niemann-Pick Diseases / Q000378:metabolism*; D010712:Phosphatidic Acids / Q000378:metabolism*; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D012867:Skin / Q000201:enzymology; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*; D013109:Sphingomyelins / Q000378:metabolism*
D008246:Lysophospholipids; D050178:Monoglycerides; D010712:Phosphatidic Acids; D013109:Sphingomyelins; C012786:bis(monoacylglyceryl)phosphate; D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase