A CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-III (GLYCOGEN DEBRANCHING ENZYME DEFICIENCY) WITH LIVER-CIRRHOSIS AND HYPERTROPHIC CARDIOMYOPATHY

We present a 26-year-old woman with glycogen storage disease type III (debranching enzyme deficiency) complicated with liver cirrhosis and h ypertrophic cardiomyopathy. Glycogen debranching enzyme has two cataly tic sites, oligo-1,4,-1,4-glucantransferase (EC 2.4.1.25) and amylo-1, 6-glucosidase (EC 3.2.1.33). Variability in the clinical phenotype co uld be a function of the involvement of one or other catalytic site, o r differences in tissue expression of the defective enzyme, or both. W e hypothesize that some subtypes of glycogen storage disease (GSD) typ e III may cause liver cirrhosis as seen in GSD type IV due to the accu mulation of glycogen of abnormal structure.