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Table 2 Enzyme activity and main clinical features in the studied subjects

From: Molecular study of Pompe disease in Egyptian infants

Case no Sex Age (month) Consanguinity # 1,4-α glucosidase activity (µmol/gpt/h)* Cardiomyopathy Hypotonia Hepatomegaly Respiratory distress Feeding difficulties
1 M 1  + ve 0.56  +   +   +   +   + 
2 F 1  + ve 0.32  +   +   +   +   + 
3 M 4  + ve 0.47  +   +   +   +   + 
4 F 8  + ve 0.4  +   +   +   +   + 
5 M 4  − ve 0.92  −   −   −   −   − 
  1. *µmol/gpt/h: micromole/gram protein/hour—normal enzyme activity is ˃3 µmol/gpt/h; # all patients showed positive consanguinity. The only exception is the infant whose diminished enzyme activity was detected throughout NBS