Skip to main content
Erschienen in: Journal of Neurology 5/2020

29.01.2020 | Original Communication

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

verfasst von: Francesco Macchione, Leonardo Salviati, Andrea Bordugo, Monica Vincenzi, Marta Camilot, Francesca Teofoli, Elia Pancheri, Roberta Zordan, Cinzia Bertolin, Silvia Rossi, Gaetano Vattemi, Paola Tonin

Erschienen in: Journal of Neurology | Ausgabe 5/2020

Einloggen, um Zugang zu erhalten

Abstract

Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation. Treatment with riboflavin and l-carnitine improved the clinical picture and the biochemical profile. This condition should be included in the differential diagnosis of myopathies even at an old age.
Literatur
1.
Zurück zum Zitat Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045–2054CrossRef Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045–2054CrossRef
2.
Zurück zum Zitat Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM (1988) Glutaric acidemia type II. Comparison of pathologic features in two infants. Arch Pathol Lab Med 112(11):1133–1139PubMed Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM (1988) Glutaric acidemia type II. Comparison of pathologic features in two infants. Arch Pathol Lab Med 112(11):1133–1139PubMed
3.
Zurück zum Zitat Grunert SC (2014) Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis 9:117CrossRef Grunert SC (2014) Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis 9:117CrossRef
4.
Zurück zum Zitat Liang WC, Ohkuma A, Hayashi YK, López LC, Hirano M, Nonaka I et al (2009) ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 19:212–216CrossRef Liang WC, Ohkuma A, Hayashi YK, López LC, Hirano M, Nonaka I et al (2009) ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 19:212–216CrossRef
5.
Zurück zum Zitat Doimo M, Lopreiato R, Basso V, Bortolotto R, Tessa A, Santorelli FM et al (2016) Heterologous expression in yeast of human ornithine carriers ORNT1 and ORNT2 and of ORNT1 alleles implicated in HHH syndrome in humans. JIMD Rep 28:119–126CrossRef Doimo M, Lopreiato R, Basso V, Bortolotto R, Tessa A, Santorelli FM et al (2016) Heterologous expression in yeast of human ornithine carriers ORNT1 and ORNT2 and of ORNT1 alleles implicated in HHH syndrome in humans. JIMD Rep 28:119–126CrossRef
6.
Zurück zum Zitat Zhang J, Frerman FE, Kim JJ (2006) Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci USA 103:16212–16217CrossRef Zhang J, Frerman FE, Kim JJ (2006) Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci USA 103:16212–16217CrossRef
7.
Zurück zum Zitat Sugai F, Baba K, Toyooka K, Liang WC, Nishino I, Yamadera M et al (2012) Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase. Neuromuscul Disord 22:159–161CrossRef Sugai F, Baba K, Toyooka K, Liang WC, Nishino I, Yamadera M et al (2012) Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase. Neuromuscul Disord 22:159–161CrossRef
8.
Zurück zum Zitat Wen B, Li D, Shan J, Liu S, Li W, Zhao Y et al (2013) Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation. Mol Genet Metab 109:154–160CrossRef Wen B, Li D, Shan J, Liu S, Li W, Zhao Y et al (2013) Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation. Mol Genet Metab 109:154–160CrossRef
9.
Zurück zum Zitat Izumi R, Suzuki N, Nagata M, Hasegawa T, Abe Y, Saito Y et al (2011) A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. Intern Med 0:2663–2668CrossRef Izumi R, Suzuki N, Nagata M, Hasegawa T, Abe Y, Saito Y et al (2011) A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. Intern Med 0:2663–2668CrossRef
10.
Zurück zum Zitat Peng Y, Zhu M, Zheng J, Zhu Y, Li X, Wei C et al (2015) Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. BMC Neurol 15:114CrossRef Peng Y, Zhu M, Zheng J, Zhu Y, Li X, Wei C et al (2015) Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. BMC Neurol 15:114CrossRef
11.
Zurück zum Zitat Quang D, Chen Y, Xie X (2015) DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics 31:761–763CrossRef Quang D, Chen Y, Xie X (2015) DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics 31:761–763CrossRef
12.
Zurück zum Zitat Manfredi G, Silvestri G, Servidei S, Ricci E, Mirabella M, Bertini E et al (1993) Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family. J Neurol Sci 115:91–94CrossRef Manfredi G, Silvestri G, Servidei S, Ricci E, Mirabella M, Bertini E et al (1993) Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family. J Neurol Sci 115:91–94CrossRef
13.
Zurück zum Zitat Wieser T (2004) [updated 2019 Jan 3] Carnitine palmitoyltransferase II deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. Available from https://www.ncbi.nlm.nih.gov/books/NBK1253/PubMed (PMID: 20301431) Wieser T (2004) [updated 2019 Jan 3] Carnitine palmitoyltransferase II deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. Available from https://​www.​ncbi.​nlm.​nih.​gov/​books/​NBK1253/​PubMed (PMID: 20301431)
14.
Zurück zum Zitat Liu A, Wu Q, Guo J, Ares I, Rodriguez JL, Martinez-Larranaga MR et al (2019) Statins: adverse reactions, oxidative stress and metabolic interactions. Pharmacol Ther 195:54–84CrossRef Liu A, Wu Q, Guo J, Ares I, Rodriguez JL, Martinez-Larranaga MR et al (2019) Statins: adverse reactions, oxidative stress and metabolic interactions. Pharmacol Ther 195:54–84CrossRef
15.
Zurück zum Zitat Bouitbir J, Singh F, Charles AL, Schlagowski AI, Bonifacio A, Echaniz-Laguna A et al (2016) Statins trigger mitochondrial reactive oxygen species-induced apoptosis in glycolytic skeletal muscle. Antioxid Redox Signal 24:84–98CrossRef Bouitbir J, Singh F, Charles AL, Schlagowski AI, Bonifacio A, Echaniz-Laguna A et al (2016) Statins trigger mitochondrial reactive oxygen species-induced apoptosis in glycolytic skeletal muscle. Antioxid Redox Signal 24:84–98CrossRef
16.
Zurück zum Zitat Phillips P, Ciaraldi TP, Kim DL, Verity MA, Wolfson T, Henry RR (2009) Myotoxic reactions to lipid-lowering therapy are associated with altered oxidation of fatty acids. Endocrine 35:38–46CrossRef Phillips P, Ciaraldi TP, Kim DL, Verity MA, Wolfson T, Henry RR (2009) Myotoxic reactions to lipid-lowering therapy are associated with altered oxidation of fatty acids. Endocrine 35:38–46CrossRef
17.
Zurück zum Zitat Clément K, Viguerie N, Diehn M, Alizadeh A, Barbe P, Thalamas C et al (2002) In vivo regulation of human skeletal muscle gene expression by thyroid hormone. Genome Res 12:281–291CrossRef Clément K, Viguerie N, Diehn M, Alizadeh A, Barbe P, Thalamas C et al (2002) In vivo regulation of human skeletal muscle gene expression by thyroid hormone. Genome Res 12:281–291CrossRef
18.
Zurück zum Zitat Sinclair C, Gilchrist JM, Hennessey JV, Kandula M (2005) Muscle carnitine in hypo- and hyperthyroidism. Muscle Nerve 32:357–359CrossRef Sinclair C, Gilchrist JM, Hennessey JV, Kandula M (2005) Muscle carnitine in hypo- and hyperthyroidism. Muscle Nerve 32:357–359CrossRef
19.
Zurück zum Zitat Larsson L, Degens H, Li M, Salviati L, Lee YI, Thompson W et al (2019) Sarcopenia: aging-related loss of muscle mass and function. Physiol Rev 99:427–511CrossRef Larsson L, Degens H, Li M, Salviati L, Lee YI, Thompson W et al (2019) Sarcopenia: aging-related loss of muscle mass and function. Physiol Rev 99:427–511CrossRef
Metadaten
Titel
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
verfasst von
Francesco Macchione
Leonardo Salviati
Andrea Bordugo
Monica Vincenzi
Marta Camilot
Francesca Teofoli
Elia Pancheri
Roberta Zordan
Cinzia Bertolin
Silvia Rossi
Gaetano Vattemi
Paola Tonin
Publikationsdatum
29.01.2020
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 5/2020
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-020-09729-z

Weitere Artikel der Ausgabe 5/2020

Journal of Neurology 5/2020 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Neu im Fachgebiet Neurologie

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.