Publications by authors named "Amy Klinepeter"
Mol Genet Metab Rep
December 2024
Article Synopsis
- Infantile-onset Pompe disease (IOPD) is a serious condition caused by a deficiency in the enzyme acid alpha-glucosidase, leading to severe heart and muscle problems that can be fatal within the first 2 years without treatment.
- Enzyme replacement therapy (ERT) with alglucosidase-alfa is crucial for treatment, but its success can be affected by factors like the patient's immune response and CRIM status.
- A case study of CRIM-negative twins treated with high-dose ERT and immune tolerance induction showed significant improvements in cardiac function and biomarkers, highlighting the importance of early intervention in managing IOPD.
