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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