[The Kearns-Sayre syndrome].
A case of Kearns-Sayre syndrome with hyperlactacidaemia was reported and the relationships between the syndrome and the mitochondrial cytopathies are discussed, on clinical, genetical and therapeutic ground. Positive results in the reported case were observed with a reduced carbohydrates, high fat diet, in order to lowering the hyperlactacidaemia.
Berio
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Cattedra di Pediatria, Università di Genova, Italia.
D002648:Child; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D007888:Leigh Disease / Q000175:diagnosis; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis
D007773:Lactates; D019344:Lactic Acid
La sindrome di Kearns-Sayre.