ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Conclusions The results of this survey show that respiratory-chain and pyruvate metabolism defects are rather frequent diseases in Italy. The clinical presentation, as well as the age of onset, is widely heterogeneous, mainly with respect to respiratory-chain defects; unusual and new phenotypes have been described. Even the biochemical profile is variable, including rare associations with different biochemical abnormalities. In our experience, the accurate evaluation of urine organic acid would appear compulsory in all patients in whom a respiratory-chain or pyruvate metabolism defect is suspected. The true number of affected patients in Italy is certainly higher than reported here: several other patients were reported with strongly suggestive clinical and biochemical features, but still without defined diagnosis, owing to work being in progress or to the known diagnostic difficulties connected with this group of diseases. Finally, our experience emphasizes that collaborative studies on rare disorders are effective, exchanging experiences and increasing knowledge.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01799415
