Journal of Medical Case Reports · 2007 · 33 citations · 12 references
Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersHuman GeneticsMedical GeneticsAmino Acid MetabolismEnzyme DeficienciesGenetic DisordersInborn Errors Of MetabolismNeurodevelopmental DisordersNeurogenetic DisordersAcyl-coa DehydrogenasesCongenital Enzyme DefectsDegradationEnzyme Deficiency DisordersEnzyme Deficiency In Amino Acid MetabolismGenotype-phenotype Correlation In Amino Acid DisordersNeurodevelopmental Disorder MutationsNeurodevelopmental Sequelae Of Amino Acid Disorders
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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Catherine Lord, Susan Risi, Linda Lambrecht et al. · Journal of Autism and Developmental Disorders · 2000 · 7.6K citations
Brage Storstein Andresen, Peter Bross, Szabolcs Udvari et al. · Human Molecular Genetics · 1997 · 122 citations · Full text