TY  - JOUR
AU  - Repp, Birgit M
AU  - Mastantuono, Elisa
AU  - Alston, Charlotte L
AU  - Schiff, Manuel
AU  - Haack, Tobias B
AU  - Rötig, Agnes
AU  - Ardissone, Anna
AU  - Lombès, Anne
AU  - Catarino, Claudia B
AU  - Diodato, Daria
AU  - Schottmann, Gudrun
AU  - Poulton, Joanna
AU  - Burlina, Alberto
AU  - Jonckheere, An
AU  - Munnich, Arnold
AU  - Rolinski, Boris
AU  - Ghezzi, Daniele
AU  - Rokicki, Dariusz
AU  - Wellesley, Diana
AU  - Martinelli, Diego
AU  - Wenhong, Ding
AU  - Lamantea, Eleonora
AU  - Ostergaard, Elsebet
AU  - Pronicka, Ewa
AU  - Pierre, Germaine
AU  - Smeets, Hubert J M
AU  - Wittig, Ilka
AU  - Scurr, Ingrid
AU  - de Coo, Irenaeus F M
AU  - Moroni, Isabella
AU  - Smet, Joél
AU  - Mayr, Johannes A
AU  - Dai, Lifang
AU  - de Meirleir, Linda
AU  - Schuelke, Markus
AU  - Zeviani, Massimo
AU  - Morscher, Raphael J
AU  - McFarland, Robert
AU  - Seneca, Sara
AU  - Klopstock, Thomas
AU  - Meitinger, Thomas
AU  - Wieland, Thomas
AU  - Strom, Tim M
AU  - Herberg, Ulrike
AU  - Ahting, Uwe
AU  - Sperl, Wolfgang
AU  - Nassogne, Marie-Cecile
AU  - Ling, Han
AU  - Fang, Fang
AU  - Freisinger, Peter
AU  - Van Coster, Rudy
AU  - Strecker, Valentina
AU  - Taylor, Robert W
AU  - Häberle, Johannes
AU  - Vockley, Jerry
AU  - Prokisch, Holger
AU  - Wortmann, Saskia
TI  - Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
JO  - Orphanet journal of rare diseases
VL  - 13
IS  - 1
SN  - 1750-1172
CY  - London
PB  - BioMed Central
M1  - DZNE-2020-06416
SP  - 120
PY  - 2018
AB  - Mitochondrial 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describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished.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
KW  - Acidosis: genetics
KW  - Acidosis: metabolism
KW  - Acidosis: pathology
KW  - Activities of Daily Living
KW  - Acyl-CoA Dehydrogenase: deficiency
KW  - Acyl-CoA Dehydrogenase: genetics
KW  - Acyl-CoA Dehydrogenase: metabolism
KW  - Amino Acid Metabolism, Inborn Errors: genetics
KW  - Amino Acid Metabolism, Inborn Errors: metabolism
KW  - Amino Acid Metabolism, Inborn Errors: pathology
KW  - Cardiomyopathy, Hypertrophic: genetics
KW  - Cardiomyopathy, Hypertrophic: metabolism
KW  - Cardiomyopathy, Hypertrophic: pathology
KW  - Electron Transport Complex I: metabolism
KW  - Female
KW  - Humans
KW  - Male
KW  - Mitochondrial Diseases: genetics
KW  - Mitochondrial Diseases: metabolism
KW  - Mitochondrial Diseases: pathology
KW  - Muscle Weakness: drug therapy
KW  - Muscle Weakness: genetics
KW  - Muscle Weakness: metabolism
KW  - Muscle Weakness: pathology
KW  - Prognosis
KW  - Riboflavin: therapeutic use
KW  - Acyl-CoA Dehydrogenase (NLM Chemicals)
KW  - Electron Transport Complex I (NLM Chemicals)
KW  - Riboflavin (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:30025539
C2  - pmc:PMC6053715
DO  - DOI:10.1186/s13023-018-0784-8
UR  - https://pub.dzne.de/record/140094
ER  -