title: Altered isoenzyme patterns of liver alpha-L-fucosidase in cystic fibrosis.
abstract: The isoenzyme pattern of alpha-L-fucosidase was studied by isoelectric focusing in livers from seven patients with cystic fibrosis and in normal and pathological (GM1-gangliosidosis, Type II and Sanfilippo disease) controls. The controls had very reproducible patterns consisting of seven isoenzymes of alpha-L-fucosidase with the most neutral from (I) representing a small proportion of the total activity. All seven of the cystic fibrosis livers had altered alpha-L-fucosidase isoenzyme patterns. The chemical relationship of the seven isoenzymes of normal liver alpha-L-fucosidase was investigated using neuramindase. The five most acidic forms of alpha-L-fucosidase appear to be related to the most neutral form by sialic acid residues. Since the isoenzymes of liver alpha-L-fucosidase appear to be related by sialic acid residues, it is possible that the altered alpha-L-fucosidase isoenzyme patterns found in cystic fibrosis livers may result from aberrant sialylation.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000201:enzymology*; D004186:Disaccharidases / Q000378:metabolism*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000378:metabolism*; D008099:Liver / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D009439:Neuraminidase / Q000494:pharmacology; D012794:Sialic Acids / Q000032:analysis; D005644:alpha-L-Fucosidase / Q000378:metabolism*
chemical_list: D007527:Isoenzymes; D012794:Sialic Acids; D004186:Disaccharidases; D009439:Neuraminidase; D005644:alpha-L-Fucosidase