Myoglobinuria occurs in association with massive muscle necrosis and may cause acute tubular necrosis and renal failure. In our series of 55 patients with recurrent, heritable myoglobinuria 11% had CPT deficiency, 12% defects in glycolisis, 9% defects of β-oxidation enzymes. 8% mitochondrial disorders, 13% dystrophinopathies (5 patients had recurrent myoglobinuria without muscle weakness, and a Duchenne patient had several episodes since birth leading to death in the first year of age), 13% other identified causes. 34% of the patients, however, have not been diagnosed biochemically. Therapeutic efforts are possible only for metabolic diseases. Among these, one of the very few treatable is Coenzyme Q deficiency: we demonstrated in two brothers - now 18 and 21 year-old- who presented since adolescence with severe exercise intolerance, myoglobinuria, progressive muscle weakness and epilepsy, improvement of symptoms after one year of Q10 supplementation. In conclusion, myoglobinuria is associated with heterogeneous conditions; since it may be a disastrous event, an extensive search for possible causes and the identification of high-risk individuals in each family are necessary. Beside metabolic disorders, dystrophinopathies should be considered among the most common underlying defects.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Clinical Neurology