Researchers from Jordan reported the cases of 2 patients with Pompe disease in an article published in the JAP Academy Journal. This is one of few studies on the disease in the Middle East.
The first patient that the researchers reported was a 13-year-old female who first showed symptoms at 8 months of age including dyspnea, cough, and facial cyanosis. She had prognathism and a protruded tongue. She also had cardiomegaly and nonobstructive hypertrophic cardiomyopathy.
Read more about the epidemiology of Pompe disease
She was diagnosed with Pompe disease based on the activity of the acid alpha-glucosidase (GAA) enzyme and the sequence analysis of the GAA gene.
When she was 3 years old, she started treatment with enzyme replacement therapy with recombinant human GAA, which led to significant improvements in her condition.
The second patient was a 5-month-old male who was admitted to the hospital with dyspnea and cough. He was hypoactive and hypotonic and also had prognathism and a protruded tongue. He had cardiomegaly, severe nonobstructive hypertrophic cardiomyopathy, and a small patent ductus arteriosus.
He was diagnosed with Pompe disease based on the results of GAA enzyme activity tests and GAA sequence analysis.
He developed sudden cardiac arrest a few days later and could not be saved despite a 3-cycle cardiopulmonary resuscitation.
“Pompe disease is a rare genetic disorder,” the authors wrote. “It is diagnosed by GAA enzyme activity level and sequence analysis of GAA gene.”
The prevalence of Pompe disease is around 1 in 40,000 births. However, prevalence is greater in some populations such as Southeast Asians, African Americans, and Northern Europeans of Dutch heritage, while it is lower in others. A study conducted in the United Arab Emirates reported the prevalence of infantile-onset Pompe disease to be 2.66 per 100,000.
Yousef O, Al-Jafari M, Jaber M, et al. Pompe disease, a rare condition in two patients, case reports. JAP Acad J. Published online January 27, 2023. doi:10.58877/japaj.v1i1.23