2-methylbutyryl-CoA dehydrogenase deficiency (Q4596905)
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gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.
- short/branched-chain acyl-CoA dehydrogenase deficiency
- SBCADD
- butyryl-CoA dehydrogenase deficiency
- Short branched-chain acyl-CoA dehydrogenase deficiency
- 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
- 2-methylbutyric aciduria
- SBCAD deficiency
- Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
- 2-Methylbutyryl Glycinuria
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 2-methylbutyryl-CoA dehydrogenase deficiency |
gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet. |
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C98863
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