glycogen and Sleep-Apnea-Syndromes

glycogen has been researched along with Sleep-Apnea-Syndromes* in 1 studies

Other Studies

1 other study(ies) available for glycogen and Sleep-Apnea-Syndromes

ArticleYear
Polysomnographic findings in infantile Pompe disease.
    American journal of medical genetics. Part A, 2013, Volume: 161A, Issue:12

    Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to months of life in patients with classic infantile Pompe disease. Progression of the disease often leads to respiratory failure. Although sleep apnea is reported in late-onset Pompe disease, sleep pathology is not well characterized in infantile disease. In this retrospective study, we analyzed nocturnal polysomnography results from 17 patients with infantile-onset Pompe disease. Obstructive sleep apnea and hypoventilation were common among this cohort, even in those that did not have symptoms of sleep-disordered breathing. All patients with infantile-onset Pompe disease should undergo polysomnography as a routine part of their care.

    Topics: Female; Glycogen; Glycogen Storage Disease Type II; Humans; Hypoventilation; Infant; Infant, Newborn; Lysosomes; Male; Polysomnography; Proteolysis; Sleep Apnea Syndromes

2013