Multiple acyl–CoA dehydrogenase deficiency (MADD; Glutaricaciduria IIA)
l Electron transfer flavoprotein, α polypeptide (ETFA) ; Chromosome 15q23-q25; Recessive

• Allelic with: Coenzyme Q10 deficiency
• Clinical
  • Onset age
    • Usual: Adult; 3rd & 4th decade
    • Range: 6 to 64 years
  • Myopathy²
    • Proximal
    • Weakness: May become severe
    • Myalgias: Some patients
    • Progression: Subacute over months
• Laboratory
  • Urine: High glutaric & ethylmalonic acids
    • Consistent with defective dehydrogenation of isovaleryl CoA & butyryl CoA
  • Serum CK: High; 2x to 20x
  • EMG: Myopathic, Neuropathic or Normal
  • Muscle biochemistry
    • Carnitine levels Reduced
    • Catalytic activity of mitochondrial complex I Reduced
  • Muscle pathology
    • Lipid storage: Type 1 fibers
    • ? Vacuolar myopathy
    • SDH stain: Reduced intensity
• Treatment
  • Riboflavin (100 mg/day)
  • ± Carnitine (4 g/day)
  • Coenzyme Q10

• Neonatal forms: Features
  • Acidosis
  • Hypoglycemia
  • Sweaty feet odor
  • Death