The discovery of enzyme deficiencies in lysosomal storage disorders began with two discoveries made in 1963. One of these was made by a Belgian scientist, Henri-Gery Hers, who discovered that in Pompe’s disease there was a deficiency in α-glucosidase. The other was made by an international collaboration involving an American neurologist, James Austin, and an Indian biochemist, Bimal Bachhawat, where the enzyme arylsulfatase A was found deficient in metachromatic leukodystrophy. This article attempts to trace the events that led to this fruitful collaboration and how these two young investigators eventually discovered the defective enzyme in metachromatic leukodystrophy.

溶酶体贮积症中酶缺乏的发现始于 1963 年的两项发现。其中一项是由比利时科学家 Henri-Gery Hers 发现的，他发现庞贝病中存在 α-葡萄糖苷酶缺乏。另一种是由美国神经学家 James Austin 和印度生物化学家 Bimal Bachhawat 进行的国际合作完成的，其中芳基硫酸酯酶 A 被发现在异染性脑白质营养不良中存在缺陷。本文试图追溯导致这一富有成果的合作的事件，以及这两位年轻的研究人员如何最终发现异染性脑白质营养不良中的缺陷酶。