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000140094 037__ $$aDZNE-2020-06416
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000140094 1001_ $$aRepp, Birgit M$$b0
000140094 245__ $$aClinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
000140094 260__ $$aLondon$$bBioMed Central$$c2018
000140094 264_1 $$2Crossref$$3online$$bSpringer Science and Business Media LLC$$c2018-07-19
000140094 264_1 $$2Crossref$$3print$$bSpringer Science and Business Media LLC$$c2018-12-01
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000140094 520__ $$aMitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy.We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. We found 34 known and 18 previously unreported variants in ACAD9. No patients harbored biallelic loss of function mutations, indicating that this combination is unlikely to be compatible with life. Causal pathogenic variants were distributed throughout the entire gene, and there was no obvious genotype-phenotype correlation. Most of the patients presented in the first year of life. For this subgroup the survival was poor (50% not surviving the first 2 years) comparing to patients with a later presentation (more than 90% surviving 10 years). The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Interestingly, severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers.Our data show that riboflavin treatment improves complex I activity in the majority of patient-derived fibroblasts tested. This effect was also reported for most of the treated patients and is mirrored in the survival data. In the patient group with disease-onset below 1 year of age, we observed a statistically-significant better survival for patients treated with riboflavin.
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000140094 650_7 $$0EC 1.3.8.7$$2NLM Chemicals$$aAcyl-CoA Dehydrogenase
000140094 650_7 $$0EC 7.1.1.2$$2NLM Chemicals$$aElectron Transport Complex I
000140094 650_7 $$0TLM2976OFR$$2NLM Chemicals$$aRiboflavin
000140094 650_2 $$2MeSH$$aAcidosis: genetics
000140094 650_2 $$2MeSH$$aAcidosis: metabolism
000140094 650_2 $$2MeSH$$aAcidosis: pathology
000140094 650_2 $$2MeSH$$aActivities of Daily Living
000140094 650_2 $$2MeSH$$aAcyl-CoA Dehydrogenase: deficiency
000140094 650_2 $$2MeSH$$aAcyl-CoA Dehydrogenase: genetics
000140094 650_2 $$2MeSH$$aAcyl-CoA Dehydrogenase: metabolism
000140094 650_2 $$2MeSH$$aAmino Acid Metabolism, Inborn Errors: genetics
000140094 650_2 $$2MeSH$$aAmino Acid Metabolism, Inborn Errors: metabolism
000140094 650_2 $$2MeSH$$aAmino Acid Metabolism, Inborn Errors: pathology
000140094 650_2 $$2MeSH$$aCardiomyopathy, Hypertrophic: genetics
000140094 650_2 $$2MeSH$$aCardiomyopathy, Hypertrophic: metabolism
000140094 650_2 $$2MeSH$$aCardiomyopathy, Hypertrophic: pathology
000140094 650_2 $$2MeSH$$aElectron Transport Complex I: metabolism
000140094 650_2 $$2MeSH$$aFemale
000140094 650_2 $$2MeSH$$aHumans
000140094 650_2 $$2MeSH$$aMale
000140094 650_2 $$2MeSH$$aMitochondrial Diseases: genetics
000140094 650_2 $$2MeSH$$aMitochondrial Diseases: metabolism
000140094 650_2 $$2MeSH$$aMitochondrial Diseases: pathology
000140094 650_2 $$2MeSH$$aMuscle Weakness: drug therapy
000140094 650_2 $$2MeSH$$aMuscle Weakness: genetics
000140094 650_2 $$2MeSH$$aMuscle Weakness: metabolism
000140094 650_2 $$2MeSH$$aMuscle Weakness: pathology
000140094 650_2 $$2MeSH$$aPrognosis
000140094 650_2 $$2MeSH$$aRiboflavin: therapeutic use
000140094 7001_ $$aMastantuono, Elisa$$b1
000140094 7001_ $$aAlston, Charlotte L$$b2
000140094 7001_ $$aSchiff, Manuel$$b3
000140094 7001_ $$aHaack, Tobias B$$b4
000140094 7001_ $$aRötig, Agnes$$b5
000140094 7001_ $$aArdissone, Anna$$b6
000140094 7001_ $$aLombès, Anne$$b7
000140094 7001_ $$aCatarino, Claudia B$$b8
000140094 7001_ $$aDiodato, Daria$$b9
000140094 7001_ $$aSchottmann, Gudrun$$b10
000140094 7001_ $$aPoulton, Joanna$$b11
000140094 7001_ $$aBurlina, Alberto$$b12
000140094 7001_ $$aJonckheere, An$$b13
000140094 7001_ $$aMunnich, Arnold$$b14
000140094 7001_ $$aRolinski, Boris$$b15
000140094 7001_ $$aGhezzi, Daniele$$b16
000140094 7001_ $$aRokicki, Dariusz$$b17
000140094 7001_ $$aWellesley, Diana$$b18
000140094 7001_ $$aMartinelli, Diego$$b19
000140094 7001_ $$aWenhong, Ding$$b20
000140094 7001_ $$aLamantea, Eleonora$$b21
000140094 7001_ $$aOstergaard, Elsebet$$b22
000140094 7001_ $$aPronicka, Ewa$$b23
000140094 7001_ $$aPierre, Germaine$$b24
000140094 7001_ $$aSmeets, Hubert J M$$b25
000140094 7001_ $$aWittig, Ilka$$b26
000140094 7001_ $$aScurr, Ingrid$$b27
000140094 7001_ $$ade Coo, Irenaeus F M$$b28
000140094 7001_ $$aMoroni, Isabella$$b29
000140094 7001_ $$aSmet, Joél$$b30
000140094 7001_ $$aMayr, Johannes A$$b31
000140094 7001_ $$aDai, Lifang$$b32
000140094 7001_ $$ade Meirleir, Linda$$b33
000140094 7001_ $$aSchuelke, Markus$$b34
000140094 7001_ $$aZeviani, Massimo$$b35
000140094 7001_ $$aMorscher, Raphael J$$b36
000140094 7001_ $$aMcFarland, Robert$$b37
000140094 7001_ $$aSeneca, Sara$$b38
000140094 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b39$$udzne
000140094 7001_ $$0P:(DE-HGF)0$$aMeitinger, Thomas$$b40
000140094 7001_ $$aWieland, Thomas$$b41
000140094 7001_ $$aStrom, Tim M$$b42
000140094 7001_ $$aHerberg, Ulrike$$b43
000140094 7001_ $$aAhting, Uwe$$b44
000140094 7001_ $$aSperl, Wolfgang$$b45
000140094 7001_ $$aNassogne, Marie-Cecile$$b46
000140094 7001_ $$aLing, Han$$b47
000140094 7001_ $$aFang, Fang$$b48
000140094 7001_ $$aFreisinger, Peter$$b49
000140094 7001_ $$aVan Coster, Rudy$$b50
000140094 7001_ $$aStrecker, Valentina$$b51
000140094 7001_ $$aTaylor, Robert W$$b52
000140094 7001_ $$aHäberle, Johannes$$b53
000140094 7001_ $$aVockley, Jerry$$b54
000140094 7001_ $$aProkisch, Holger$$b55
000140094 7001_ $$0P:(DE-HGF)0$$aWortmann, Saskia$$b56$$eCorresponding author
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