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Journal of Medical Case Reports

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Open Access 01-12-2007 | Case report

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

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

Published in: Journal of Medical Case Reports | Issue 1/2007

Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.

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Title: 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
Authors: Oivind J. Kanavin
Berit Woldseth
Egil Jellum
Bjorn Tvedt
Brage S. Andresen
Petter Stromme
Publication date: 01-12-2007
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2007
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-1-98

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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