2-Methylbutyryl-CoA Dehydrogenase Deficiency [Supplementary Concept]
mutation in ACADSB
Date introduced: November 5, 2024
MeSH Unique ID: C566487
Heading Mapped to:
Entry Terms:
- 2-Methylbutyryl Glycinuria
- SBCADD
- 2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency
- 2-MBCD Deficiency
- Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency
- 2-ethylhydracylic aciduria
- Elevated urinary 2-ethylhydracylic acid
- Elevated urinary 2-methylbutyrylglycine