Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
Glycogen storage disease type II (GSDII) is an autosomal recessive myopathy caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with recombinant GAA (rh-GAA) has become available for GSDII, although its effectiveness in adults remains unknown. We present a case of ERT with rhGAA in a 49-year-old male with GSDII in a severe stage of the disease. Quantitative magnetic resonance imaging showed an increase in muscle mass of the inferior limb, especially evident on the quadriceps femoris and the patient's body weight increased up to 30%, although his reported dietary habits were the same as before ERT. Beyond improvement in muscle strength and respiratory function, we observed a dramatic increase in body mass index from 12.7 to 16.6 kg/m(2). This may reflect a change from a catabolic state to a more balanced metabolic state during ERT.
Ravaglia
Sabrina
S
Institute of Neurology IRCCS C Mondino, University of Pavia, Pavia, Italy. sabrina.ravaglia@mondino.it
Danesino
Cesare
C
Pichiecchio
Anna
A
Repetto
Alessandra
A
Poloni
Guy Umberto
GU
Rossi
Miriam
M
Fratino
Pietro
P
Moglia
Arrigo
A
Costa
Alfredo
A
D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D011994:Recombinant Proteins / Q000627:therapeutic use*; D000520:alpha-Glucosidases / Q000627:therapeutic use*
D011994:Recombinant Proteins; C509951:GAA protein, human; D000520:alpha-Glucosidases