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2-Methylbutyryl-CoA Dehydrogenase Deficiency

MESHC566487

mutation in ACADSB

Synonyms

  • 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

Source last updated 2026-05-24T15:29:57.769Z