title: [Enzyme replacement therapy in a patient with Pompe disease].
abstract: Pompe disease is a rare autosomal recessive disease caused by the deficiency of acid alpha-glucosidase (GAA), which is required for the degradation of lysosomal glycogen. Glycogen accumulation in heart, muscle and liver eventually leads to muscle weakness, hepatomegaly and cardiomegaly. Although an approved therapy does not exist, the efficacy of enzyme replacement therapy (ERT) has recently been reported in multinational trials in Europe and the US. Here, we present data on the efficacy of recombinant human acid alpha-glucosidase (rhGAA) (provided by Genzyme Corporation) in a patient with Pompe disease. At 5 months of age, motor delay (could not raise his head) and cardiomegaly were observed. A definite diagnosis of Pompe disease was made at 8 months of age after the accumulation of glycogen in a muscle biopsy specimen was observed. This was confirmed by low GAA activity. Since then, motor delay predominated and he was unable to sit independently by age 2.5 years. Every 2 weeks, 20 mg/kg of rhGAA was infused intravenously. To assess the effectiveness, chest X-ray, echocardiography and auditory brain response were recorded. The patient was administered rhGAA for 26 months from 2 years and 8 months of age. Following the initiation of ERT, hepatomegaly and cardiac function (ejection fraction) were rapidly improved and motor function was gradually improved. At 4 years and 10 months, the patient could walk with support. No adverse event has been observed. It can be concluded that ERT with rhGAA is an effective and safe regimen for this case.
authors: Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo. fuji@oha.toho-u.ac.jp
authors: Yoshinao
authors: Y
authors: Fujikawa
authors: Satoru
authors: S
authors: Kinoshita
authors: Yusaku
authors: Y
authors: Miyamoto
authors: Tojo
authors: T
authors: Nakayama
authors: Yusaku
authors: Y
authors: Endo
authors: Masayuki
authors: M
authors: Sasaki
mesh_terms: D002675:Child, Preschool; D004334:Drug Administration Schedule; D016057:Evoked Potentials, Auditory, Brain Stem; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans; D008297:Male; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases