2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2007-09-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/1/1/98 |