Dawson G, Stein A O
Science. 1970 Oct 30;170(3957):556-8. 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.
一名3岁黑人女性表现出神经内脏贮积症的临床证据，其特征为红细胞、血浆、骨髓、尿沉渣、肝活检和脑活检中乳糖基神经酰胺特异性升高。通过无法裂解末端半乳糖标记有氚的乳糖基神经酰胺，证实存在半乳糖基水解酶缺乏。这种酶缺乏可能是这种先前未报道的鞘脂沉积症的主要原因。
