(Q4596905)
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.
- 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
Statements
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5 references
C98863
1 reference
Identifiers
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