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Respiratory‐chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients
Author(s) -
Caruso U.,
Adami A.,
Bertini E.,
Burlina A. B.,
Carnevale F.,
Cerone R.,
DionisiVici C.,
Giordano G.,
Leuzzi E.,
Parenti G.,
Savasta S.,
Uziel G.,
Zeviani M.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799415
Subject(s) - respiratory chain , presentation (obstetrics) , respiratory system , medicine , human genetics , biology , biochemistry , surgery , mitochondrion , gene
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.