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2-methylbutyryl-CoA dehydrogenase deficiency

Disease definition

A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.

ORPHA:79157

Classification level: Disorder
  • Synonym(s):
    • 2-methylbutyric aciduria
    • Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
    • SBCAD deficiency
    • Short/branched-chain acyl-coA dehydrogenase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 610006
  • UMLS: C1864912
  • MeSH: -
  • GARD: 10322
  • MedDRA: -
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