People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required to…
Genetics
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…
People with late-onset Pompe disease (LOPD) rarely have genetic variations in genes that are important for making glycogen in muscle cells, a new study suggests. “We did not find a single variant that strongly affected the phenotype,” or observable characteristics in patients that result from the expression of a…
Three siblings with Pompe disease caused by the same mutations were described in a recent report. Despite all having the same disease-causing mutations, the clinical presentation of the three children differed dramatically — one began showing symptoms in infancy, while another had not shown clinical abnormalities at the age…
Late-onset Pompe disease (LOPD) patients exhibit significant gene activity changes in their skeletal muscles compared with healthy people, some of which were normalized after six months of Nexviazyme (avalglucosidase alfa) treatment, a study found. Pathways involved in lysosome function, energy metabolism, and inflammation appeared to be most altered,…
Researchers created and characterized an infantile-onset Pompe disease (IOPD) mouse model that carried a genetic defect commonly found among people with Southern Han Chinese ancestry, a study reported. The model recapitulated most of the signs and symptoms of IOPD and, according to researchers, is ideal to evaluate potential IOPD…
A newborn boy was diagnosed with both infantile-onset Pompe disease (IOPD) and sickle cell disease (SCD) in the first case study to report two co-existing genetic disorders. The boy was given enzyme replacement therapy (ERT), a standard Pompe treatment, and regular blood transfusions to prevent heart damage…
In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs — and would be diagnosed with the late-onset type, or LOPD — expressed uncertainty about the age of symptom onset for their sons and daughters, and concerns about their child’s future.
A little over a year ago, I wrote a column discussing the topic of family planning. Recently, we discovered that our family will be growing by one! We have lots of planning to do before my new baby comes next January. Of course, we are happy about the news…
The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making…
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