classic infantile-onset Pompe disease

Three new mutations in the GAA gene were linked with heart disease and severe breathing problems in infants with infantile-onset Pompe disease (IOPD) in Malaysia, a study reports. “The novel mutations identified in this study expands the mutation spectrum for IOPD,” the researchers wrote. Also, among the 17 IOPD patients…

My 5-year-old son, Cayden, is on track with most children his age when it comes to height and weight. But we struggled with his weight for years. He was labeled “failure to thrive” when he was just 4 weeks old. It took until about the age of 1 for…

I’m sure most people in the U.S. have heard of the Americans with Disabilities Act (ADA), a civil rights law that protects people with disabilities from discrimination in all areas of life. It became law in 1990, and its sole purpose is to ensure that people with disabilities are…

Heart defects detected with cardiac MRI (CMR) may help diagnose classic infantile-onset Pompe disease in early childhood, a case report from China suggests. An imaging exam showed a patient’s heart ventricles — the chambers that pump blood through the bloodstream and lungs — were enlarged, along with fibrosis (scarring).

A newborn screening program for Pompe disease in Minnesota was found effective for getting babies with infantile-onset disease started on early treatment, but challenges remain for those with late-onset disease (LOPD). “The management of LOPD cases including the establishment of standardized follow up guidelines … and a better…

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — are increased from infancy to young adulthood in classic infantile-onset Pompe disease (IOPD) patients given enzyme replacement therapy (ERT), a study shows. This contrasted significantly with the blood NfL level reduction seen in…

Among children with classic infantile-onset Pompe disease (IOPD), enzyme replacement therapy (ERT) was associated with prolonged survival, but mortality rates remained high, according to a recent French study. In general, while mortality rates were high in the first three years of life, patients then stabilized on ERT for…

A surgical technique called conjoint fascial sheath (CFS) suspension may help relieve drooping eyelids in children with infantile-onset Pompe disease (IOPD). “Surgical correction may provide a practical option for ptosis [drooping eyelid] correction in patients with IOPD,” the researchers wrote in “Blepharoptosis in infantile onset Pompe disease:…

Cardiac function normalized within a year of starting enzyme replacement therapy (ERT) for children with classic infantile-onset Pompe disease (IOPD) and remained stable over about 10 years, a study found. The findings were confirmed with standard and more advanced techniques to look at cardiac function. In light of the…

My 5-year-old son, Cayden, was really looking forward to starting preschool at the end of February. But after only a week of school, he became sick. While this didn’t really come as a surprise, it was a bit disappointing. I know that colds and the flu can spread like wildfire…