Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence

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概要

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• A 17-year-old Japanese man was referred to our hospital because of highly elevated serum levels of creatine kinase (CK) and transaminases. On admission, the proximal muscles of the lower extremities were found to be predominantly affected, and a score of 3/5 was obtained on Medical Research Council (MRC) scale. Muscular atrophy was evident and Gowers' sign was positive. His functional vital capacity (FVC) was markedly reduced. The results of the third edition of the Wechsler Adult Intelligence Scale (WAIS-III) indicated impairment of the patient's intelligence. Muscle biopsy showed scattered intracytoplasmic vacuoles with basophilic amorphous materials inside which were strongly stained by both periodic acid Schiff (PAS) and acid phosphatase. Biochemical analysis of the muscle tissue confirmed the diagnosis of GSDII because the glucosidase activity was 1.0 nmol/4 MU/mg/30 min (control range, 7.3 ± 2.2). Genetic analysis revealed a novel compound heterozygous missense mutation in GAA -c.1814 G >A (p.Gly605Asp) and c.1846 G >A (p.Asp616Asn) both in exon 13.

著者

• Nanba Eiji

  Division Of Functional Genomics Research Center For Bioscience And Technology Tottori University

• Sugie Hideo

  Department Of Pediatric Neurology Hamamatsu City Medical Center For Developmental Medicine

• Adachi Kaori

  Division Of Pediatric Neurology Yokohama Ryouikuen

• Fukuda Tokiko

  Department Of Pediatric Neurology Hamamatsu City Medical Center For Developmental Medicine

• Nishino Ichizo

  Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog

• Murao Koji

  Department Of Advanced Medicine And Laboratory Medicine Kagawa University

• Ishida Toshihiko

  Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Japan

• Nanba Eiji

  Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan

• Muraoka Tomie

  Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Japan

• Imachi Hitomi

  Department of Advanced Medicine, Faculty of Medicine, Kagawa University, Japan

• Kikuchi Fumi

  Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Japan

• Yoshimoto Takuo

  Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Japan

• Iwama Hisakazu

  Life Science Research Center, Kagawa University, Japan

• Hosokawa Hitoshi

  Social Insurance Ritsurin Hospital, Japan

• Murao Koji

  Department of Advanced Medicine, Faculty of Medicine, Kagawa University, Japan

• Adachi Kaori

  Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan

• Ishida Toshihiko

  Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University

• Fukuda Tokiko

  Department of Pediatrics, Jichi Medical University and Jichi Children's Medical Center, Japan

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