A New Mutation of Pompe Disease in a 2-Month-Old Infant

Abstract

Pompe disease or type 2 glycogen storage disease (GSD), is an autosomal recessive disorder, occurs by deficiency of an enzyme (acid maltase) which degrades glycogen in lysosomes. It is classified into infantile and late onset types.Identifying PD presents several challenges due to the wide range of phenotypes and phenotype overlap with other neuromuscular disorder. However, in cases of suspected Pompe disease, performing genetic testing and starting treatment immediately after proving the disease has an effective role in reducing the rate of progression of disease symptoms.With the progress made in genetic tests, sometimes new mutations are added to the existing genetic bank.So far, more than 600 mutations are known to cause many signs and symptoms, and some of these mutations are more common in certain breeds and cause more symptoms and more deaths.In this case report, we introduce a Pompe patient with a new genetic mutation that is of pathogenic types. This patient had presented with sign of severe hypotonia and cardiomegaly, increased cardiac enzymes, and abnormal liver tests. Despite enzyme therapy immediately after diagnosis, she died.