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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2018
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  • Above-average Attention Score compared to outputs of the same age (60th percentile)
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Title
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Published in
Orphanet Journal of Rare Diseases, July 2018
DOI 10.1186/s13023-018-0784-8
Pubmed ID
Authors

Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann

Abstract

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 We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished.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% 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.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 94 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 94 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 16 17%
Student > Bachelor 12 13%
Student > Ph. D. Student 10 11%
Other 6 6%
Student > Postgraduate 5 5%
Other 13 14%
Unknown 32 34%
Readers by discipline Count As %
Medicine and Dentistry 21 22%
Biochemistry, Genetics and Molecular Biology 15 16%
Neuroscience 6 6%
Nursing and Health Professions 5 5%
Agricultural and Biological Sciences 2 2%
Other 9 10%
Unknown 36 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 October 2023.
All research outputs
#8,519,455
of 25,483,400 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,250
of 3,129 outputs
Outputs of similar age
#134,621
of 340,611 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#34
of 51 outputs
Altmetric has tracked 25,483,400 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 3,129 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 59% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 340,611 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.
We're also able to compare this research output to 51 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.