グルコシダーゼ欠損を伴わないリソソームグリコーゲン蓄積病
WordNet
- an impairment of health or a condition of abnormal functioning
- (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
- the act of storing something
- the commercial enterprise of storing goods and materials
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
- 『…なしに』,を持たないで,を使わないで / 《条件を表す句を作って》『もし…がなければ』 / 《動名詞を伴って》『…しないで[は]』,せずに / 《付帯状況のないこと》…しないで / 《古》《場所》『…を外に』 / 《限度》『…[の限度]を越えて』 / 外に,外部に / 外部 / もし…でなければ(unless)
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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English Journal
- Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: Identification of 6 novel mutations.
- Fu L1, Qiu W2, Yu Y3, Guo Y1, Zhao P1, Zhang X1, Liu C1, Li F1, Huang H4, Huang M5, Chen S6.Author information 1Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.2Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.3Department of Internal Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.4Department of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.5Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. Electronic address: huangmeirong@scmc.com.cn.6Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. Electronic address: chensb@sh163.net.AbstractPompe disease is an autosomal recessive disorder and is caused by a deficiency in acid alpha-glucosidase (GAA). A broad range of studies have been performed on Pompe patients from different countries. However, the clinical course and molecular basis of the disease in Mainland China have not been well defined. In the present study, we examined a total of 18 Chinese children with infantile-onset Pompe disease to better understand the clinical and genetic features in this population. The median age at symptom onset was 3.6months (range: 1.7-6.8months) and 6.3months at diagnosis (range: 2.5-9.3months). All but 1 patient died at a median age of 8.2months (range: 4.7-18.7months). Molecular analysis revealed 20 different mutations, 6 of which are novel (c.1356delC, c.378G>A, c.1827C>G, c.859-2 A>T, c.1551+2T>G, and c.1465G>T). The most common mutation in the study was c.1935C>A, accounting for 25% (9/36 alleles) of the mutations. Our study provides the first comprehensive examination of the clinical course of infantile-onset Pompe disease and mutations of the GAA gene for patients in Mainland China. Our results confirm the high prevalence of the c.1935C>A mutation, previously reported for other populations, in Mainland Chinese patients with infantile-onset Pompe disease. Furthermore, six novel mutations in the GAA gene are reported for the first time.
- Gene.Gene.2014 Feb 1;535(1):53-9. doi: 10.1016/j.gene.2013.10.066. Epub 2013 Nov 21.
- Pompe disease is an autosomal recessive disorder and is caused by a deficiency in acid alpha-glucosidase (GAA). A broad range of studies have been performed on Pompe patients from different countries. However, the clinical course and molecular basis of the disease in Mainland China have not been wel
- PMID 24269976
- Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
- Nilsson MI1, Kroos MA2, Reuser AJ3, Hatcher E1, Akhtar M1, McCready ME4, Tarnopolsky MA5.Author information 1Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8 3Z5.2Department of Clinical Genetics and Pediatrics, Erasmus MC University Medical Center, Rotterdam, Netherlands.3Department of Clinical Genetics and Pediatrics, Erasmus MC University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Disease, Erasmus MC University Medical Center, Rotterdam, Netherlands.4Department of Pathology and Molecular Medicine, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8 3Z5.5Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8 3Z5. Electronic address: tarnopol@mcmaster.ca.AbstractPompe disease is a clinically and genetically heterogeneous autosomal recessive disorder caused by lysosomal acid α-glucosidase (GAA) deficiency. We report on two affected members of a non-consanguineous Caucasian family, including a classical infantile-onset patient with severe cardiomyopathy (IO) and his paternal grandmother with the adult-onset (AO) form. Two compound heterozygous sequence variants of the GAA gene were identified in each patient by mutation analyses (IO=c.1211A>G and c.1798C>T; AO=c.1211A>G and c.692+5G>T). For this study, the biochemical phenotype resulting from the missense mutation c.1211A>G in exon 8, which converts a highly conserved aspartate to glycine (p.Asp404Gly), was of specific interest because it had not been reported previously. Western blotting revealed a robust expression of all GAA isoforms in quadriceps muscle of both patients (fully CRIM positive), while enzymatic activity was 3.6% (IO) and 6.6% (AO) of normal controls. To further validate these findings, the c.1211A>G sequence variant was introduced in wild type GAA cDNA and over-expressed in HEK293T cells. Site-directed mutagenesis analyses confirmed that the mutation does not affect processing or expression of GAA protein, but rather impairs enzyme function. Similar results were reported for c.1798C>T (p.Arg600Cys), which further supports the biochemical phenotype observed in IO. The third mutation (c.692+5G>T, in intron 3) was predicted to affect normal splicing of the GAA mRNA, and qPCR indeed verified a 4-fold lower mRNA expression in AO. It is concluded that the novel sequence variant c.1211A>G results in full CRIM but significantly lower GAA activity, which in combination with c.1798C>T leads to infantile-onset Pompe disease. We surmise that the difference in disease severity between the two family members in this study is due to a milder effect of the intronic mutation c.692+5G>T (vs. c.1798C>T) on phenotype, partially preserving GAA activity and delaying onset in the proband (paternal grandmother).
- Gene.Gene.2013 Dec 30. pii: S0378-1119(13)01694-6. doi: 10.1016/j.gene.2013.12.033. [Epub ahead of print]
- Pompe disease is a clinically and genetically heterogeneous autosomal recessive disorder caused by lysosomal acid α-glucosidase (GAA) deficiency. We report on two affected members of a non-consanguineous Caucasian family, including a classical infantile-onset patient with severe cardiomyopathy (IO)
- PMID 24384324
- The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
- Alansari A, Al-Rawahi S, Ba-Omar T, Al-Nabhani M, Date A.Author information Department of Biology, College of Science, Sultan Qaboos University, Muscat, Oman.AbstractOBJECTIVES: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency. Early enzyme replacement therapy can benefit infants with the disease but the diagnosis is complicated by the rarity of the disease and the heterogeneity of the clinical manifestations. In this study, DNA extracted from archival postmortem formalin-fixed paraffin-embedded tissues was used to identify Pompe disease mutations in Oman and develop a rapid molecular-based test.
- Sultan Qaboos University medical journal.Sultan Qaboos Univ Med J.2013 Nov;13(4):502-9. Epub 2013 Nov 8.
- OBJECTIVES: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency. Early enzyme replacement therapy can benefit infants with the disease but the diagnosis is complicated by the rarity of the diseas
- PMID 24273659
Japanese Journal
- Lysosomal glycogen storage disease without acid maltase deficiency. A lectin-histochemical study of an unusual type of lysosomal glycogen storage disease.
- KASHIO NOBUYUKI,USUKI FUSAKO,HIGUCHI ITSURO,NAKAHARA KEIICHI,OSAME MITSUHIRO,TSUYAMA SHINICHIRO,IHIDA KAORI,MURATA FUSAYOSHI
- ACTA HISTOCHEMICA ET CYTOCHEMICA 24(6), 603-611, 1991
- … Lectin histochemical studies were performed on frozen sections of biopsied skeletal muscle from two unrelated patients with lysosomal glycogen storage disease without acid maltase deficiency. …
- NAID 130000933102
Related Links
- 1. Neurology. 1983 Jul;33(7):873-7. Lysosomal glycogen storage disease without acid maltase deficiency. Riggs JE, Schochet SS Jr, Gutmann L, Shanske S, Neal WA, DiMauro S. We studied two brothers with ...
- Glycogen storage disease type II, or acid alpha-glucosidase (acid maltase) deficiency, is an inherited disorder of glycogen metabolism resulting from defective activity of the lysosomal enzyme alpha-glucosidase in tissues ...
★リンクテーブル★
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- 英
- lysosomal glycogen storage disease without glucosidase deficiency
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- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
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- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
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- 関
- pool、pooling、preservation、preserve、reserve、store
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- 関
- lysosome
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グリコーゲン