multiple acyl CoA dehydrogenase deficiency (MADD); glutaric aciduria-2; ethylmalonic-adipic aciduria

Pathology

• disorder of fatty acid, amino acid, & choline metabolism
• in its most severe form in presents in infancy, with polycystic & dysplastic kidneys, hypoketotic acidosis & hypoglycemia that can lead to death
• milder form can be characterized by recurrent episodes of lasting lethargy or slowly progressive myopathy

Genetics

• autosomal recessive
• can be caused by mutations in at least 3 different genes: ETFA, ETFB, ETFDH, glutaricaciduria IIA, IIB, & IIC, respectively

Clinical manifestations

• appears to be no difference in the clinical phenotypes among IIA, IIB, & IIC

Laboratory

• urinary excretion of:
  • glutaric acid
  • lactic acid
  • ethylmalonic acid
  • butyric acid
  • isobutyric acid
  • 2-methyl-butyric acid
  • isovaleric acid

More general terms

• glutaric aciduria

Database

• OMIM: https://mirror.omim.org/entry/231680