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Multiple acyl-CoA dehydrogenase deficiency

Disease definition

Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.

ORPHA:26791

  • Synonym(s):
    • Glutaric acidemia type 2
    • Glutaric aciduria type 2
    • MAD deficiency
    • MADD
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E71.3
  • OMIM: 231680
  • UMLS: C0268596  C2931346
  • MeSH: -
  • GARD: 6523
  • MedDRA: -

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