Increased Excretion of a Glucose‐Containing Tetrasaccharide in the Urine of a Patient with Glycogen Storage Disease Type II (Pompe's Disease)

A glucose‐containing tetrasaccharide (13 mg/24 h) was isolated from the urine of a ten year old boy with the “childhood form” of glycogen storage disease type II (Pompe's disease). The structure, established by sugar analysis, methylation analysis, optical rotation and enzymatic degradation was found to be α‐D‐Glc p (lr̊6)‐α‐D‐Glc p (l r̊ 4).α‐D‐Glc p (1r̊4)‐D‐Glc. The same compound was also isolated in small amounts (1 mg/24 h) from normal urine. Larger glucose‐containing oligosaccharides, not detected in normal urine were also present in the urine of the Pompe case.