Clinicians at Caen University Hospital and Necker-Enfants Malades Hospital in Paris report the case of a 33-year-old female patient whose history was confusing in several respects:
- it all began with psychiatric symptoms in the form of severe eating disorders,
- followed a few months later by the onset of muscle weakness and a concomitant elevation in CPK (15,000 IU/l),
- the acylcarnitine profile was negative, as was the chromatography of organic acids in the urine,
- only genetic testing (whole exome) made it possible to link the various symptoms to a genuine acetyl-CoA dehydrogenase (MADD) deficiency associated with two heterozygous variants in the ETFDH gene.
The authors emphasise the atypical presentations of MADD deficiency, which constitute a missed opportunity, as this condition can be effectively treated with vitamin supplementation.
