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Chemical studies on postmortem tissues from an infant with a sphingomyelin storage disorder
Author(s) -
Donaghey S. F. O'B.,
Raine D. Noel,
Crossley J. E.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02310880
Subject(s) - sphingomyelin , human genetics , medicine , pathology , chemistry , biochemistry , cholesterol , gene
Investigations of formalin‐stored tissues from a female child 3 weeks old showed that the concentrations of sphingomyelin, cholesterol and other lipids were increased in spleen and other tissues. Although the disorder could not be confirmed enzymatically, the findings are most consistent with the patient having a sphingomyelin storage disorder. Tissue lipid data for a series of subjects without storage disorders are presented and may provide useful information for interpretation of results from autopsy samples.