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

Abstract

Pompe disease, also known as type 2 glycogen storage disease (GSD), is an autosomal recessive disorder. It occurs due to the deficiency of an enzyme, acid maltase, which degrades glycogen in lysosomes. This deficiency leads to glycogen accumulation in several tissues, such as cardiac muscle cells [1]. The disease is classified into infantile and late-onset types. Infantile Pompe disease (IPD) can manifest with feeding problems, hepatomegaly, generalized muscle weakness, hypotonia, macroglossia, and hypertrophic cardiomyopathy [1-3], from the first day to weeks of life [1]. If left untreated, IPD leads to cardiorespiratory failure and death within one year. Late-onset Pompe disease (LOPD), which includes juvenile-, childhood-, and adult-onset disease, is characterized by proximal muscle weakness, respiratory muscle involvement (especially the diaphragm), and arrhythmia. The prognosis of LOPD is less severe than that of IPD [1]. Diagnosis can be made by gene sequencing of the acid alpha-glucosidase (GAA) gene and enzyme assay in dried blood, muscle, skin, and blood cells [5,6]. During pregnancy, diagnosis can also be made by amniocentesis [1]. Treatment with enzyme replacement using recombinant human acid α-glucosidase is effective. As IPD is rapidly progressive, treatment should be initiated as soon as possible. Enzyme therapy can prevent and reverse cardiac and muscle involvement [1]. According to the information the authors have about Pompe disease, in most cases, the initial signs and symptoms are common with other diseases. In these cases, genetic testing significantly helps to definitively diagnose the disease. With the progress made in genetic tests, sometimes new mutations are added to the existing genetic bank. In this case report, the authors introduce a Pompe patient with a new genetic mutation of pathogenic types. This patient had presented with signs of severe hypotonia and cardiomegaly, increased cardiac enzymes, and abnormal liver tests. Despite enzyme therapy immediately after diagnosis, the patient died.