Multiple acyl-CoA dehydrogenase deficiency (MADD): management

Blood tests

• Serum free carnitine: this is increased
• Acyl-carnitine: this is increased
• Co-enzyme Q10: this is usually normal but it may be reduced
• Ammonia: this is increased
• Creatinine kinase (CK): this is elevated
• Lactic acidosis
• Hypoglycaemia

Urinary acid excretion

Muscle biopsy

Magnetic resonance imaging (MRI) muscle

Magnetic resonance imaging (MRI) brain: location of high signal changes

Treatment

Synonym

References

1. Olsen RK, Olpin SE, Andresen BS, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007; 130:2045-2054. 
2. Liang WC, Nishino I. Lipid storage myopathy. Curr Neurol Neurosci Rep 2011; 11:97-103.
3. Ohkuma A, Noguchi S, Sugie H, et al. Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve 2009; 39:333-342.
4. Béhin A, Acquaviva-Bourdain C, Souvannanorath S, et al. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease. Rev Neurol (Paris) 2016; 172:231-241.
5. Wolfe LA, He M, Vockley J, Payne N, et al. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. J Inherit Metab Dis 2010; 33(Suppl 3):S481-S487.
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Related checklists

• Multiple acyl-CoA dehydrogenase deficiency (MADD): clinical features