Pompe Disease

and, Arnold J.J. Reuser; Ploeg, Ans T. van der

doi:10.1002/9781118514672.ch13

Cited by 3 publications

(1 citation statement)

References 15 publications

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“…This broad definition of the late-onset subtype is somewhat problematic because the appearance of symptoms in a young child can hardly be called "late-onset". Perhaps a better definition of clinical phenotypes, adopted by several groups, is 'classic infantile', 'childhood', and 'adult' Pompe disease [49][50][51]. The commonly cited frequency of the disease is 1 in 40,000 live births, but the results of newborn screening make this estimate outdated and reveal a much higher frequency [52][53][54].…”

Section: Brief Introductionmentioning

confidence: 99%

Failure of Autophagy in Pompe Disease

Do,

Meena,

Raben

2024

Biomolecules

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Autophagy is an evolutionarily conserved lysosome-dependent degradation of cytoplasmic constituents. The system operates as a critical cellular pro-survival mechanism in response to nutrient deprivation and a variety of stress conditions. On top of that, autophagy is involved in maintaining cellular homeostasis through selective elimination of worn-out or damaged proteins and organelles. The autophagic pathway is largely responsible for the delivery of cytosolic glycogen to the lysosome where it is degraded to glucose via acid α-glucosidase. Although the physiological role of lysosomal glycogenolysis is not fully understood, its significance is highlighted by the manifestations of Pompe disease, which is caused by a deficiency of this lysosomal enzyme. Pompe disease is a severe lysosomal glycogen storage disorder that affects skeletal and cardiac muscles most. In this review, we discuss the basics of autophagy and describe its involvement in the pathogenesis of muscle damage in Pompe disease. Finally, we outline how autophagic pathology in the diseased muscles can be used as a tool to fast track the efficacy of therapeutic interventions.

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Section: Brief Introductionmentioning

confidence: 99%

Failure of Autophagy in Pompe Disease

Do,

Meena,

Raben

2024

Biomolecules

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Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

et al. 2016

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Oro-pharyngeal dysphagia commonly occurs in patients with infantile onset Pompe disease (IOPD), which is a rare recessive neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. Without treatment, death occurs by 1 year of age from cardiorespiratory failure. Enzyme replacement therapy (ERT) has been used to increase life expectancy, however emerging developmental and medical morbidities have become apparent. A case file review of the feeding outcomes of 12 patients with IOPD, managed at a single tertiary centre, was undertaken. Two types of assessment had been completed: clinical feeding assessment (CFA) and instrumental videofluoroscopy swallow study (VFSS). A rating of functional oral intake at every Speech and Language Therapy feeding assessment from initial diagnosis to the most recent assessment was applied using the functional oral intake scale (FOIS).Results indicate, initial diagnosis VFSS predicts long-term feeding outcomes. Even if a patient had an improvement in oral feeding after diagnosis, over a period of time their oral intake returned to the initial diagnosis VFSS level or below. All patients (8/8) who required non-oral feeding support under 6 months of age went on to require non-oral feeding support, even if they had periods of full oral feeding. CRIM negative status predicted significant oral feeding difficulties. An evidence-based follow-up protocol was developed. The information is used at diagnosis to counsel families regarding feeding prognosis and consideration of early gastrostomy when cardiac status allows safe anaesthesia. The results reinforce that feeding changes over time and patients require on-going dysphagia monitoring.

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