Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia

Abstract

Background Variable increases in the plasma activity of different lysosomal enzymes have been reported in patients with congenital disorders of glycosylation (CDG). In particular, elevated plasma aspartylglucosaminidase activity (AGA) has been found in the majority of CDG type I patients. We report on the plasma activity of AGA and other lysosomal enzymes in patients with different types of primary and secondary CDG defects. Methods AGA, α-mannosidase, β-mannosidase and β-hexosaminidase activities were assayed in the plasma of patients with CDGI (4CDGIa, 4CDGIx) and CDGIIx (5, all with a combined N- and O-glycosylation defect), classical galactosemia (GALT) ( n = 3) and hereditary fructose intolerance (HFI) ( n = 2). Results Increased AGA and β-hexosaminidase activities were found in all and 7/8 of the GDGI patients respectively. All enzymic activities were normal in the CDGIIx patients. Elevated AGA and β-hexosaminidase activity was also seen in GALT and HFI patients before treatment, when transferrin isoelectric focusing (TfIEF) patterns were also abnormal. Conclusions Increased AGA plasma activity, although a consistent finding in CDGI patients, is not specific to this group of disorders since it is also observed in untreated cases of GALT and HFI. Furthermore, plasma AGA activity cannot serve as a marker for CDGII disorders. In conjunction with TfIEF it could be used in the follow up of GALT and HFI patients.