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Journal of Medical Case Reports

, 1:98

First Online: 20 September 2007Received: 30 May 2007Accepted: 20 September 2007DOI: 10.1186-1752-1947-1-98

Cite this article as: Kanavin, O.J., Woldseth, B., Jellum, E. et al. J Med Case Reports 2007 1: 98. doi:10.1186-1752-1947-1-98


Background2-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.

MethodsWe 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.

ResultsWe 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.

ConclusionThis 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.

AbbreviationsACADSBacyl-CoA dehydrogenase short-branched chain

GC-MSgas chromatography – mass spectrometry

MS-MStandem mass spectroscopy

SBCADDshort branched chain acyl CoA dehydrogenase deficiency

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

Fuente: https://link.springer.com/

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