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Sphingomyelin Lipidosis

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


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