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2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

Overview of attention for article published in Journal of Medical Case Reports, September 2007
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (69th percentile)
  • High Attention Score compared to outputs of the same age and source (84th percentile)

Mentioned by

wikipedia
1 Wikipedia page

Citations

dimensions_citation
15 Dimensions

Readers on

mendeley
31 Mendeley
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Title
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
Published in
Journal of Medical Case Reports, September 2007
DOI 10.1186/1752-1947-1-98
Pubmed ID
Authors

Oivind J. Kanavin, Berit Woldseth, Egil Jellum, Bjorn Tvedt, Brage S. Andresen, Petter Stromme

Abstract

2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. We report a four-year-old mentally retarded Somali boy with autism and a history of seizures, who was found to excrete increased amounts of 2-methylbutyryl glycine in the urine. The SBCAD gene was examined with sequence analysis. His development was assessed with psychometric testing before and after a trial with low protein diet. We found homozygosity for A > G changing the +3 position of intron 3 (c.303+3A > G) in the SBCAD gene. Psychometric testing showed moderate mental retardation and behavioral scores within the autistic spectrum. No beneficial effect was detected after 5 months with a low protein diet. This mutation was also found in two previously reported cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD.

Mendeley readers

The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Denmark 1 3%
Unknown 30 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 19%
Other 5 16%
Student > Ph. D. Student 5 16%
Professor 3 10%
Researcher 3 10%
Other 5 16%
Unknown 4 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 7 23%
Medicine and Dentistry 6 19%
Psychology 5 16%
Nursing and Health Professions 2 6%
Biochemistry, Genetics and Molecular Biology 2 6%
Other 4 13%
Unknown 5 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 08 April 2011.
All research outputs
#919,195
of 4,005,713 outputs
Outputs from Journal of Medical Case Reports
#146
of 872 outputs
Outputs of similar age
#32,072
of 114,085 outputs
Outputs of similar age from Journal of Medical Case Reports
#3
of 19 outputs
Altmetric has tracked 4,005,713 research outputs across all sources so far. This one has received more attention than most of these and is in the 63rd percentile.
So far Altmetric has tracked 872 research outputs from this source. They receive a mean Attention Score of 2.6. This one has done well, scoring higher than 78% 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 114,085 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 69% of its contemporaries.
We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.