[Skip to Navigation]
April 1978

Sphingomyelin Lipidosis

Author Affiliations

Department of Pediatrics University of Colorado Medical Center Denver, CO 80262

Am J Dis Child. 1978;132(4):431-432. doi:10.1001/archpedi.1978.02120290103025

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


Sir.—In our article in the Journal entitled "Nine Cases of Sphingomyelin Lipidosis, a New Variant in Spanish-American Children" (Am J Dis Child 131:955-961, 1977), an apparent discrepancy is observed in the sphingomyelinase activity of patient 1 in Table 2. This culture gives normal activity for this enzyme whereas two similarly affected siblings have partial enzyme deficiencies (cases 2 and 3). However, the culture was started from a skin biopsy specimen from patient 1 more than 7.5 years ago, was stored in another laboratory, and was returned here for study. The possibility of a mix-up in cultures during this time was considered. Recently, patient 1 came to this laboratory and a skin biopsy specimen was taken and cells were cultured. Patient 1 was found to have a sphingomyelinase activity of 41.8 nmoles/mg protein/hr that is consistent with the partial deficiency observed in the other similarly affected children. Hopefully, this will

First Page Preview View Large
First page PDF preview
First page PDF preview