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.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health