Successful treatment of respiratory insufficiency due to adult acid maltase deficiency with noninvasive positive pressure ventilation.
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.
Puruckherr
Michael
M
James H. Quillen Veterans Affairs Medical Center 111-B, PO Box 4000, Mountain Home, TN 37684-4000, USA.
Pooyan
Payam
P
Girish
Mirle R
MR
Byrd
Ryland P
RP
Roy
Thomas M
TM
D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications*; D006801:Humans; D008875:Middle Aged; D017286:Polysomnography; D011175:Positive-Pressure Respiration; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy*