遗传代谢性疾病的临床和生化特征：X. 代谢性肌病。
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.
机构信息
Laboratory for Neuromuscular Diseases, Campus Pietro d'Abano, University of Padova, Padova, Italy.
Division of Inherited Metabolic Diseases, Reference Center for Expanded Newborn Screening, University Hospital Padova, 35128, Padua, Italy.
出版信息
Mol Genet Metab. 2022 Sep-Oct;137(1-2):213-222. doi: 10.1016/j.ymgme.2022.09.004. Epub 2022 Sep 18.
Abstract
Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to generate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to impaired muscle development or functioning. We have summarized associations of signs and symptoms in 358 inherited metabolic diseases presenting with myopathies. This represents the tenth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
摘要
代谢性肌病的特征是必需代谢物或燃料的缺乏或功能障碍，无法为肌肉收缩产生能量；由于肌肉发育或功能受损，它们最常表现为神经肌肉症状。我们总结了 358 种遗传性代谢疾病中与肌病相关的体征和症状的关联。这是根据系统受累情况创建和维护全面的临床和代谢鉴别诊断列表的十篇系列文章之一。
相似文献
1
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.遗传代谢性疾病的临床和生化特征：X. 代谢性肌病。
Mol Genet Metab. 2022 Sep-Oct;137(1-2):213-222. doi: 10.1016/j.ymgme.2022.09.004. Epub 2022 Sep 18.
2
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.遗传性代谢疾病的临床和生化特征。四、代谢性心血管疾病。
Mol Genet Metab. 2021 Feb;132(2):112-118. doi: 10.1016/j.ymgme.2020.12.290. Epub 2020 Dec 25.
3
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.遗传性代谢病的临床和生化特征。六、代谢性皮肤病。
Mol Genet Metab. 2021 Sep-Oct;134(1-2):87-95. doi: 10.1016/j.ymgme.2021.07.005. Epub 2021 Jul 21.
4
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.遗传性代谢病的临床和生化特征。五、脑瘫表型。
Mol Genet Metab. 2022 Dec;137(4):445-448. doi: 10.1016/j.ymgme.2021.03.008. Epub 2021 Mar 13.
5
Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.遗传代谢疾病的临床和生化特征。十一、胃肠道症状。
Mol Genet Metab. 2023 Mar;138(3):107528. doi: 10.1016/j.ymgme.2023.107528. Epub 2023 Feb 1.
6
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated.遗传性代谢疾病的临床和生化特征：Ia. 运动障碍，更新版
Mol Genet Metab. 2025 May;145(1):109084. doi: 10.1016/j.ymgme.2025.109084. Epub 2025 Mar 18.
7
Metabolic myopathies: a clinical approach; part I.代谢性肌病：临床诊疗方法；第一部分。
Pediatr Neurol. 2000 Feb;22(2):87-97. doi: 10.1016/s0887-8994(99)00133-2.
8
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.遗传代谢性疾病的临床和生化特征。III. 精神表现。
Mol Genet Metab. 2020 May;130(1):1-6. doi: 10.1016/j.ymgme.2020.02.007. Epub 2020 Feb 21.
9
Approach to the diagnosis of metabolic myopathies.代谢性肌病的诊断方法。
Indian J Pathol Microbiol. 2022 May;65(Supplement):S277-S290. doi: 10.4103/ijpm.ijpm_1088_21.
10
Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.遗传性代谢病的临床和生化特征。二、代谢性肝病。
Mol Genet Metab. 2019 Jun;127(2):117-121. doi: 10.1016/j.ymgme.2019.04.002. Epub 2019 Apr 12.
引用本文的文献
1
Identifying inherited metabolic disorders in children: the role of elevated creatine kinase.识别儿童遗传性代谢紊乱：肌酸激酶升高的作用。
BMC Pediatr. 2025 Aug 8;25(1):612. doi: 10.1186/s12887-025-05953-6.
2
Electron-Transferring Flavoprotein and Its Dehydrogenase Required for Fungal Pathogenicity in .电子转移黄素蛋白及其脱氢酶在 真菌致病性中的作用。
Int J Mol Sci. 2024 Oct 11;25(20):10934. doi: 10.3390/ijms252010934.
3
Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI.通过定量肌肉磁共振成像评估神经肌肉疾病及相关症状
J Clin Med. 2024 Mar 28;13(7):1958. doi: 10.3390/jcm13071958.
4
Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.遗传性代谢疾病的临床与生化特征。十六、血液学异常。
Mol Genet Metab. 2023 Dec;140(4):107735. doi: 10.1016/j.ymgme.2023.107735. Epub 2023 Nov 13.
5
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.遗传性代谢疾病的临床与生化特征。十四、代谢性肾脏疾病。
Mol Genet Metab. 2023 Nov;140(3):107683. doi: 10.1016/j.ymgme.2023.107683. Epub 2023 Aug 12.
6
Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.遗传性代谢疾病的临床和生化特征。十三、呼吸表现。
Mol Genet Metab. 2023 Nov;140(3):107655. doi: 10.1016/j.ymgme.2023.107655. Epub 2023 Jul 24.
7
Case report: Mitochondrial trifunctional protein deficiency caused by gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient.病例报告：由基因突变（c.1175C>T）引起的线粒体三功能蛋白缺乏症，其特征为高级脑功能障碍继发神经病变，一名成年患者的脑部影像学检查显示钆增强。
Front Neurol. 2023 Jun 13;14:1187822. doi: 10.3389/fneur.2023.1187822. eCollection 2023.
8
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.遗传性代谢疾病的临床和生化特征。十二、免疫缺陷。
Mol Genet Metab. 2023 May;139(1):107582. doi: 10.1016/j.ymgme.2023.107582. Epub 2023 Apr 17.
9
Case report: Novel compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II.病例报告：在一名迟发性II型戊二酸血症患者中鉴定出新型复合杂合突变。
Front Neurol. 2023 Jan 27;14:1087421. doi: 10.3389/fneur.2023.1087421. eCollection 2023.
10
Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.遗传代谢疾病的临床和生化特征。十一、胃肠道症状。
Mol Genet Metab. 2023 Mar;138(3):107528. doi: 10.1016/j.ymgme.2023.107528. Epub 2023 Feb 1.
本文引用的文献
1
Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.遗传代谢性疾病的临床和生化特征。VIII. 肿瘤。
Mol Genet Metab. 2022 Jun;136(2):118-124. doi: 10.1016/j.ymgme.2022.03.011. Epub 2022 Mar 28.
2
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.遗传性代谢疾病的临床和生化特征。VII. 眼部表型。
Mol Genet Metab. 2022 Apr;135(4):311-319. doi: 10.1016/j.ymgme.2022.02.002. Epub 2022 Feb 15.
3
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.遗传性代谢病的临床和生化特征。六、代谢性皮肤病。
Mol Genet Metab. 2021 Sep-Oct;134(1-2):87-95. doi: 10.1016/j.ymgme.2021.07.005. Epub 2021 Jul 21.
4
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.遗传性代谢病的临床和生化特征。五、脑瘫表型。
Mol Genet Metab. 2022 Dec;137(4):445-448. doi: 10.1016/j.ymgme.2021.03.008. Epub 2021 Mar 13.
5
Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency.贝扎贝特激活 PPAR 导致 VLCAD 缺乏症患者细胞线粒体氧化还原生物能量紊乱和活力降低。
Biochim Biophys Acta Mol Basis Dis. 2021 Jun 1;1867(6):166100. doi: 10.1016/j.bbadis.2021.166100. Epub 2021 Feb 5.
6
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.遗传性代谢疾病的临床和生化特征。四、代谢性心血管疾病。
Mol Genet Metab. 2021 Feb;132(2):112-118. doi: 10.1016/j.ymgme.2020.12.290. Epub 2020 Dec 25.
7
An international classification of inherited metabolic disorders (ICIMD).国际遗传性代谢疾病分类（ICIMD）。
J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/jimd.12348.
8
Skeletal muscle magnetic resonance imaging in Pompe disease.庞贝病的骨骼肌肉磁共振成像。
Muscle Nerve. 2021 May;63(5):640-650. doi: 10.1002/mus.27099. Epub 2020 Nov 6.
9
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.遗传代谢性疾病的临床和生化特征。III. 精神表现。
Mol Genet Metab. 2020 May;130(1):1-6. doi: 10.1016/j.ymgme.2020.02.007. Epub 2020 Feb 21.
10
Metabolic lipid muscle disorders: biomarkers and treatment.代谢性脂质肌肉疾病：生物标志物与治疗
Ther Adv Neurol Disord. 2019 Apr 22;12:1756286419843359. doi: 10.1177/1756286419843359. eCollection 2019.
Zotero 插件