Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism

Science  30 Oct 1970:
Vol. 170, Issue 3957, pp. 556-558
DOI: 10.1126/science.170.3957.556


A 3-year-old Negro female showed clinical evidence of a neurovisceral storage disorder that has been characterized by the specific elevation of lactosyl ceramide in erythrocytes, plasma, bone marrow, urine sediment, liver biopsy, and brain biopsy. A galactosyl hydrolase deficiency was demonstrated by the inability to cleave lactosyl ceramide labeled with tritium in the terminal galactose. The enzyme deficiency may be the primary cause of this previously unreported sphingolipidosis.