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Hepatic storage of bis(monoacylglycerol) phosphate without concomitant storage of sphingomyelin in a 72‐year‐old patient with a partial deficiency of sphingomyelinase
Author(s) -
Poulos A.,
Beckman K.,
Ellis D. H.,
Pollard A. C.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01440.x
Subject(s) - monoacylglycerol lipase , sphingomyelin , concomitant , chemistry , endocrinology , medicine , cholesterol , endocannabinoid system , receptor
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 biospy; instead, a lipid tentatively identified as bis(monoacylglycero1) 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.