Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.

ABSTRACT: Classic infantile Pompe disease is caused by abnormal lysosomal glycogen accumulation in multiple tissues, including the brain due to a deficit in acid α-glucosidase. Although treatment with recombinant human acid α-glucosidase has dramatically improved survival, recombinant human acid α-glucosidase does not reach the brain, and surviving classic infantile Pompe patients develop progressive cognitive deficits and white matter lesions. We investigated the feasibility of measuring non-invasively glycogen build-up and other metabolic alterations in the brain of classic infantile Pompe patients. Four classic infantile patients (8-16 years old) and 4 age-matched healthy controls were scanned on a 7 T MRI scanner. We used T₂-weighted MRI to assess the presence of white matter lesions

SUBMITTER: Najac C 

PROVIDER: S-EPMC11416038 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature