An update on diagnosis and therapy of metabolic myopathies

References

• Lilleker JB, Keh YS, Roncaroli F, et al. Metabolic myopathies: a practical approach. Pract Neurol. 2018;18:14–26.
   PubMedGoogle Scholar
• van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet. 2008;372:1342–1353.
   PubMed Web of Science ®Google Scholar
• De Castro M, Johnston J, Biesecker L. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med. 2015;17:1002–1006.
   PubMed Web of Science ®Google Scholar
• Tarnopolsky MA. Metabolic myopathies. Continuum (Minneap Minn). 2016;22:1829–1851.
   PubMedGoogle Scholar
• Toscano A, Barca E, Musumeci O. Update on diagnostics of metabolic myopathies. Curr Opin Neurol. 2017;30:553–562.
   PubMed Web of Science ®Google Scholar
• DiMauro S, Garone C, Naini A. Metabolic myopathies. Curr Rheumatol Rep. 2010;12:386–393.
   PubMedGoogle Scholar
• Liang WC, Nishino I. State of the art in muscle lipid diseases. Acta Myol. 2010;29:351–356.
   PubMedGoogle Scholar
• Tein I. Disorders of fatty acid oxidation. Handb Clin Neurol. 2013;113:1675–1688.
   PubMedGoogle Scholar
• Salviati L, Trevisson E, Doimo M, et al. Primary Coenzyme Q(10) Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2017 Jan 26. p. 1993–2018. Available from: http://www.ncbi.nlm.nih.gov/books/NBK410087/
   Google Scholar
• Pena LD, van Calcar SC, Hansen J, et al.; IBEMC. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol Genet Metab. 2016;118:272–281.
   PubMed Web of Science ®Google Scholar
• Preisler N, Cohen J, Vissing CR, et al. Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency. Mol Genet Metab. 2017;122:117–121.
   PubMed Web of Science ®Google Scholar
• Czell D, Abicht A, Hench J, et al. Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation. BMJ Case Rep. 2012;2012:bcr2012006980. .
   PubMedGoogle Scholar
• Brady S, Godfrey R, Scalco RS, et al. Emotionally-intense situations can result in rhabdomyolysis in McArdle disease. BMJ Case Rep. 2014;2014:bcr2013203272. .
   PubMedGoogle Scholar
• Ben Jehuda R, Eisen B, Shemer Y, et al. CRISPR correction of the PRKAG2 gene mutation in the patient’s induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities. Heart Rhythm. 2018;15:267–276.
   PubMed Web of Science ®Google Scholar
• Nascimento A, Villalobos-Pinto E. A new phenotype of infantile-onset Pompe disease. Rev Neurol. 2018;66:121–124.
   PubMed Web of Science ®Google Scholar
• Desikan M, Scalco RS, Manole A, et al. GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). Neuromuscul Disord. 2018;28:346–349.
   PubMed Web of Science ®Google Scholar
• Quackenbush D, Devito J, Garibaldi L, et al. Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. J Pediatr Endocrinol Metab. 2018;31:473–478.
   PubMed Web of Science ®Google Scholar
• Bali DS, Goldstein JL, Fredrickson K, et al. Clinical and molecular variability in patients with PHKA2 variants and liver phosphorylase b kinase deficiency. JIMD Rep. 2017;37:63–72.
   PubMedGoogle Scholar
• Bo R, Yamada K, Kobayashi H, et al. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. J Hum Genet. 2017;62:809–814.
   PubMed Web of Science ®Google Scholar
• Gutiérrez-Rivas E, Bautista J, Vílchez JJ, et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord. 2015;25:548–553.
   PubMed Web of Science ®Google Scholar
• Golsari A, Nasimzadah A, Thomalla G, et al. Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy. Neuromuscul Disord. 2018;28:257–261.
   PubMed Web of Science ®Google Scholar
• Fontaine M, Kim I, Dessein AF, et al. Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency. Mol Genet Metab. 2018;123:441–448.
   PubMed Web of Science ®Google Scholar
• Esterhuizen K, Lindeque JZ, Mason S, et al. A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS). Mitochondrion. 2018 Feb 19;S1567–7249(17)30237–4. DOI:10.1016/j.mito.2018.02.003.
   PubMedGoogle Scholar
• Semplicini C, Hézode-Arzel M, Laforêt P, et al. The role of electrodiagnosis with long exercise test in mcardle disease. Muscle Nerve. 2018 Jan 19. DOI:10.1002/mus.26074
   PubMed Web of Science ®Google Scholar
• Finsterer J, Wanschitz J, Quasthoff S, et al. Causally treatable, hereditary neuropathies in Fabry’s disease, transthyretin-related familial amyloidosis, and Pompe’s disease. Acta Neurol Scand. 2017;136:558–569.
   PubMed Web of Science ®Google Scholar
• Yamamoto Y, Matsui N, Hiramatsu Y, et al. Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease. Rinsho Shinkeigaku. 2017;57:82–87.
   PubMedGoogle Scholar
• Finsterer J. Mitochondrial neuropathy. Clin Neurol Neurosurg. 2005;107:181–186.
   PubMed Web of Science ®Google Scholar
• El-Hattab AW, Wang J, Dai H, et al. MPV17-related mitochondrial dna maintenance defect. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2012 May 17. p. 1993–2018. [2018 May 17]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK92947/
   Google Scholar
• Iapadre G, Morana G, Vari MS, et al. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype. Eur J Paediatr Neurol. 2018;22:563–567.
   PubMed Web of Science ®Google Scholar
• Cohen BH, Chinnery PF, Copeland WC. POLG-related disorders. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2010 Mar 16. p. 1993–2018. [2018 Mar 1]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK26471/
   Google Scholar
• Sancho P, Sánchez-Monteagudo A, Collado A, et al. A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. Neurogenetics. 2017;18:245–250.
   PubMed Web of Science ®Google Scholar
• Lemoine S, Panaye M, Rabeyrin M, et al. Renal involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) syndrome: a case report. Am J Kidney Dis. 2018;71:754–757.
   PubMed Web of Science ®Google Scholar
• Röeben B, Marquetand J, Bender B, et al. Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function. Orphanet J Rare Dis. 2017;12:135.
   PubMed Web of Science ®Google Scholar
• Moosa S, Haagerup A, Gregersen PA, et al. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A. 2017;173:1102–1108.
   PubMed Web of Science ®Google Scholar
• Wang Z, Hong D, Zhang W, et al. Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord. 2016;26:170–175.
   PubMed Web of Science ®Google Scholar
• Lollert A, Stihl C, Hötker AM, et al. Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy. PLoS One. 2018 Jan 9;13(1):e0190784 .
   PubMed Web of Science ®Google Scholar
• Auranen M, Palmio J, Ylikallio E, et al. PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. Neurol Genet. 2015;1:e7.
   PubMed Web of Science ®Google Scholar
• Sixel BS, Silva LD, Cavalcanti NC, et al. Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil. J Bras Pneumol. 2017;43:54–59.
   PubMed Web of Science ®Google Scholar
• Savarese M, Torella A, Musumeci O, et al. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. Neuromuscul Disord. 2018 Apr 9;S0960–8966(17)31489-X. DOI:10.1016/j.nmd.2018.03.011.
   Web of Science ®Google Scholar
• Vega AI, Medrano C, Navarrete R, et al. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. Genet Med. 2016;18:1037–1043.
   PubMed Web of Science ®Google Scholar
• Szymańska E, Szymańska S, Truszkowska G, et al. Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities. Arch Med Sci. 2018;14:237–247.
   PubMed Web of Science ®Google Scholar
• Andersen ST, Haller RG, Vissing J. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol. 2008;65:786–789.
   PubMedGoogle Scholar
• El-Gharbawy A, Vockley J. Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and the carnitine shuttle system. Pediatr Clin North Am. 2018;65:317–335.
   PubMed Web of Science ®Google Scholar
• Evans M, Andresen BS, Nation J, et al. VLCAD deficiency: follow-up and outcome of patients diagnosed through newborn screening in Victoria. Mol Genet Metab. 2016;118:282–287.
   PubMed Web of Science ®Google Scholar
• Ørngreen MC, Nørgaard MG, van Engelen BG, et al. Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency. Neurology. 2007;69:313–315.
   PubMed Web of Science ®Google Scholar
• Mozrzymas R, Konikowska K, Regulska-Ilow B. Energy exchangers with LCT as a precision method for diet control in LCHADD. Adv Clin Exp Med. 2017;26:515–525.
   PubMed Web of Science ®Google Scholar
• Voermans NC, Preisler N, Madsen KL, et al. PGM1 deficiency: substrate use during exercise and effect of treatment with galactose. Neuromuscul Disord. 2017;27:370–376.
   PubMed Web of Science ®Google Scholar
• Nolting K, Park JH, Tegtmeyer LC, et al. Limitations of galactose therapy in phosphoglucomutase 1 deficiency. Mol Genet Metab Rep. 2017;13:33–40.
   PubMed Web of Science ®Google Scholar
• Finsterer J, Bindu PS. Therapeutic strategies for mitochondrial disorders. Pediatr Neurol. 2015;52:302–313.
   PubMed Web of Science ®Google Scholar
• Vissing J. Exercise training in metabolic myopathies. Rev Neurol (Paris). 2016;172:559–565.
   PubMed Web of Science ®Google Scholar
• Quinlivan R, Vissing J, Hilton-Jones D, et al. Physical training for McArdle disease. In: Quinlivan R, editor. Cochrane database of systematic reviews. Chichester, UK: John Wiley & Sons, Ltd; 2011.
   Google Scholar
• Montagnese F, Thiele S, Wenninger S, et al. Long-term whole-body vibration training in two late-onset Pompe disease patients. Neurol Sci. 2016;37:1357–1360.
   PubMed Web of Science ®Google Scholar
• Vatanavicharn N, Yamada K, Aoyama Y, et al. Carnitine-acylcarnitine translocase deficiency: two neonatal cases with common splicing mutation and in vitro bezafibrate response. Brain Dev. 2015;37:698–703.
   PubMed Web of Science ®Google Scholar
• Djouadi F, Habarou F, Le Bachelier C, et al. Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. J Inherit Metab Dis. 2016;39:47–58.
   PubMed Web of Science ®Google Scholar
• Desbats MA, Lunardi G, Doimo M, et al. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 2015;38:145–156.
   PubMed Web of Science ®Google Scholar
• Yubero D, Montero R, Armstrong J, et al. Molecular diagnosis of coenzyme Q10 deficiency. Expert Rev Mol Diagn. 2015;15:1049–1059.
   PubMed Web of Science ®Google Scholar
• Finsterer J, Frank M. Glucocorticoids for mitochondrial disorders. Singapore Med J. 2015;56:122–123.
   PubMed Web of Science ®Google Scholar
• Chien YH, Hwu WL, Lee NC, et al. Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease. Mol Genet Metab Rep. 2017;11:31–35.
   PubMed Web of Science ®Google Scholar
• Kawakami K, Kawakami N, Nohara A, et al. Spinal fusion as a viable treatment option for scoliosis management in Pompe disease: a postoperative 3-year follow-up. Eur Spine J. 2016;25(Suppl. 1):140–146.
   PubMedGoogle Scholar
• Li Z, Shen J, Liang J. Scoliosis in mitochondrial myopathy: case report and review of the literature. Medicine (Baltimore). 2015;94:e513.
   PubMed Web of Science ®Google Scholar
• Zobeiri M. Liver transplantation in a myopathic patient with glycogen storage disease type IIIa and decompensated cirrhosis. Int J Organ Transplant Med. 2017;8:217–220.
   PubMed Web of Science ®Google Scholar
• Moini M, Mistry P, Schilsky ML. Liver transplantation for inherited metabolic disorders of the liver. Curr Opin Organ Transplant. 2010;15:269–276.
   PubMed Web of Science ®Google Scholar
• De Giorgio R, Pironi L, Rinaldi R, et al. Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Ann Neurol. 2016;80:448–455.
   PubMed Web of Science ®Google Scholar
• Landis JL, Hyland H, Kindel SJ, et al. Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy. Mol Genet Metab Rep. 2018;16:1–4.
   PubMed Web of Science ®Google Scholar
• Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell-derived recombinant human acid alphaglucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149:89–97.
   PubMed Web of Science ®Google Scholar
• van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362:1396–1406.
   PubMed Web of Science ®Google Scholar
• Stepien KM, Hendriksz CJ, Roberts M, et al. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years. Mol Genet Metab. 2016;117:413–418.
   PubMed Web of Science ®Google Scholar
• Kuperus E, Kruijshaar ME, Wens SCA, et al. Long-term benefit of enzyme replacement therapy in Pompe disease: a 5-year prospective study. Neurology. 2017;89:2365–2373.
   PubMed Web of Science ®Google Scholar
• Poelman E, Hoogeveen-Westerveld M, Kroos-de Haan MA, et al. High sustained antibody titers in patients with classic infantile pompe disease following immunomodulation at start of enzyme replacement therapy. J Pediatr. 2018;195:236–43.e3.
   PubMed Web of Science ®Google Scholar
• Yadak R, Sillevis Smitt P, van Giesbergern MW, et al. Mitochondrial neurogastrointestinal encephalomyopathy caused by thymidine phosphorylase enzyme deficiency: from pathogenesis to emerging therapeutic options. Front Cell Neurosci. 2017;11:31. .
   PubMed Web of Science ®Google Scholar
• Halter JP, Michael W, Schüpbach M, et al. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2015;138:2847–2858.
   PubMed Web of Science ®Google Scholar
• Poulton J, Finsterer J, Yu-Wai-Man P. Genetic counselling for maternally inherited mitochondrial disorders. Mol Diagn Ther. 2017;21:419–429.
   PubMed Web of Science ®Google Scholar