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

被引：22

作者：

Kanavin O.J. ^{[1
]}

Woldseth B. ^{[2
]}

Jellum E. ^{[2
]}

Tvedt B. ^{[1
]}

Andresen B.S. ^{[3
,4
]}

Stromme P. ^{[1
,5
]}

机构：

[1] Department of Pediatrics, Ullevål University Hospital, Oslo

[2] Department of Clinical Chemistry, Rikshospitalet-Radiumhospitalet Medical Center, Oslo

[3] Research Unit for Molecular Medicine, Skejby Sygehus

[4] Institute of Human Genetics, Aarhus University, Aarhus

[5] Faculty of Medicine, University of Oslo, Oslo

来源：

Journal of Medical Case Reports | / 1卷 / 1期

关键词：

Autism Spectrum Disorder; Infantile Spasm; Angelman Syndrome; Dehydrogenase Deficiency; Moderate Mental Retardation;

D O I：

10.1186/1752-1947-1-98

中图分类号：

学科分类号：

摘要：

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. © 2007 Kanavin et al; licensee BioMed Central Ltd.

引用

共 15 条

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[14]

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[15]

Korman S.H., Andresen B.S., Zeharia A., Gutman A., Boneh A., Pitt J.J., 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: Application to diagnosis and implications for the R-pathway of isoleucine oxidation, Clin Chem, 51, pp. 610-617, (2005)

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