Junction: Cardiology

A Rare Case of Pompe Disease and Congenital Myasthenic Syndrome

Researchers reported a rare case of a 4-year-old girl with co-occurrence of Pompe disease and congenital myasthenia syndrome type 5. The case report, published in Cureus, described good results from whole-exome sequencing for an early diagnosis and subsequent alglucosidase alfa enzyme replacement therapy (ERT), which is currently the only approved treatment for Pompe disease. “Early…

Longer Walk Distance Correlated With Improved Outcomes in Pompe Study

Scientists have discovered that improved walking distance is associated with improved quality of life in patients with Pompe disease, and published their findings in Value in Health. In incurable, progressive diseases such as Pompe disease, improving a patient’s quality of life becomes the cornerstone medical objective. Scientists have explored various ways to measure the quality…

Study Highlights Clinical Manifestations of CPT2 Deficiency

Researchers presented the case of a baby born at term with multiorgan dysfunction, severe metabolic acidosis, and hyperkalemia. The baby was later diagnosed with neonatal carnitine palmitoyltransferase type 2 (CPT2) deficiency, a form of long chain fatty acid oxidation disorder (LCFAOD), and succumbed to death a few days later. “The neonatal form of [CPT2] deficiency…

genetic testing

Case Reports: Low GAA Activity Not Always Caused By Pompe Disease

Researchers presented 2 cases of pediatric patients with Duchenne muscular dystrophy (DMD) and low acid alpha-glucosidase (GAA) activity and high creatinine kinase (CK) levels in a study published in Frontiers in Pediatrics. Typically, low GAA activity is associated with Pompe disease. In these cases, the infants were initially presumed to have Pompe disease. Upon genetic…

genomic testing

Genome Editing Restores GAA Function in Patient With IOPD

Researchers managed to restore the function of the acid alpha-glucosidase (GAA) enzyme in fibroblasts derived from a patient with infantile-onset Pompe disease (IOPD) using genome editing techniques. They reported their findings at the American Society of Gene and Cell Therapy (ASGCT) 25th Annual Meeting. “The results presented herein underscore the potential of base and prime…

COVID19 virus

Real-Life Data Show Risk of Contracting COVID-19 in Pompe Disease

Researchers suggest that immunodeficient patients with lysosomal storage diseases (LSDs) such as Pompe disease (PD) do not have a higher risk of contracting COVID-19 infection in comparison to the healthy population, as published in Archives de Pediatrie. While the potential increase in risk for COVID-19 in these patients is emphasized in the literature, this study…

Skeletal muscle fiber

Nutritional Cotherapy Attenuates Muscle Pathology in Pompe Disease

The administration of a ketone precursor, 1,3-butanediol (BD), increased blood ketone levels and reduced oxidative damage and autophagic buildup in type 2 muscle fibers in a mouse model with Pompe disease (PD), as published in Molecular Genetics and Metabolism. The researchers found that combining BD and antioxidant treatment was more effective than other treatments, including…

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