Enzymatic diagnosis of steroid sulfatase deficiency by high performance liquid chromatography

We established a reversed phase high performance liquid chromatographic (HPLC) method of assaying lymphocyte steroid sulfatase activity using estrone sulfate as the substrate. Application of this method for diagnosis of 8 patients allowed us to clearly distinguish the patients from the normal controls. This method is simpler and less expensive than the method previously reported, since neither radioisotope labeled substrates nor radioisotope facilities are required. We consider it to be easily used and widely available in most clinical laboratories.