Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

Glyn Dawson, Reuben Matalon, Arthur O. Stein

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Abstract

Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.

Original languageEnglish (US)
Pages (from-to)423-429
Number of pages7
JournalThe Journal of pediatrics
Volume79
Issue number3
DOIs
StatePublished - 1971
Externally publishedYes

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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