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Late-onset MADD: a polymorphic clinical picture that responds to riboflavin
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An Italian team reports data from a series of 10 patients (seven men) with late-onset multiple acyl-CoA dehydrogenase deficiency (MADD), with no family history.
- Symptoms were very varied and began between the ages of 12 and 62 years, often abruptly or evolving rapidly: myalgia and discomfort when walking, fatigue, exercise intolerance, muscle weakness, difficulty in chewing, dysphonia, dysphagia.
- Two patients had upper limb weakness and two had head droop with more generalised muscle weakness; two others had an ataxic gait with numbness and paresthesia of the lower limbs.
- CPKEnzyme contenue dans les cellules musculaires, qui est libérée dans le sang en cas d’atteinte musculaire. levels ranged from 260 to 6500 IU/L.
- Serous concentrations of long- and medium-chain acylcarnitines were elevated at the time of diagnosis.
- The presence of lipid vacuoles on the muscle biopsy was systematic and the Western blotTransfert de protéines à partir d’un gel vers une membrane souple (nitrocellulose ou nylon) après séparation par électrophorèse. Cette technique est utilisée pour identifier une protéine. showed the absence of the electron transfer protein ubiquinone oxidoreductase or flavoprotein dehydrogenase (ETFDH) in 8 muscle biopsies and a strong decrease in the other two.
- Genetic analysis revealed 14 different ETFDH gene variants, five of which were previously undescribed.
- All patients responded to riboflavin treatment (400mg/day, except for the youngest who received 200mg/d) with complete resolution of symptoms and normalisation of blood parameters at 6 months, persisting for at least two years (up to 15 years for the longest follow-up).