Successful treatment of respiratory insufficiency due to adult acid maltase deficiency with noninvasive positive pressure ventilation

Sleep Medicine
Michael PuruckherrThomas M Roy

Abstract

Acid maltase deficiency (AMD) is a rare autosomal recessive genetic disorder that results in an accumulation of glycogen in the lysosomal storage vacuoles. It is classified as a glycogen storage disease (type II) and is also known as Pompe's disease. The prognosis of the patient with AMD is poor and the main cause of death is respiratory failure. We report a female patient whose respiratory insufficiency was documented to occur most severely during rapid eye movement sleep and who benefited clinically from the institution of nocturnal noninvasive bilevel positive airway pressure.

References

May 1, 1984·Journal of Neurology, Neurosurgery, and Psychiatry·R W KeunenE M Joosten
Jan 1, 1995·Muscle & Nerve. Supplement·A J ReuserA T Van der Ploeg
Jan 13, 2000·Chest·B Caruana-MontaldoC W Zwillich
May 7, 2002·Molecular Therapy : the Journal of the American Society of Gene Therapy·Thomas J FraitesBarry J Byrne

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Citations

May 23, 2008·Brain & Development·Shin NabatameKeiichi Ozono
Jun 18, 2009·Muscle & Nerve·UNKNOWN American Association of Neuromuscular & Electrodiagnostic Medicine
Jun 30, 2004·Sleep Medicine·Antonio Culebras

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