Longitudinal polysomnographic findings in infantile Pompe disease.

Journal Article (Journal Article)

Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep-disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA). In this retrospective study, we analyzed longitudinal nocturnal polysomnography results from 10 patients with infantile-onset Pompe disease, all of which were on enzyme replacement therapy for a mean of 34.9 months at the time of follow-up study. Patients demonstrated relative stability in sleep disordered breathing, with a trend towards improvement in both OSA and central sleep apnea. ERT may help in the treatment of sleep apnea in this cohort.

Full Text

Duke Authors

Cited Authors

  • Kansagra, S; Austin, S; DeArmey, S; Kazi, Z; Kravitz, RM; Kishnani, PS

Published Date

  • April 2015

Published In

Volume / Issue

  • 167A / 4

Start / End Page

  • 858 - 861

PubMed ID

  • 25706820

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.37007


  • eng

Conference Location

  • United States