Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition

Salviati, Leonardo; Sacconi, S; Murer, L; Zacchello, G; Franceschini, L; Laverda, Am; Basso, Giuseppe; Quinzii, C; Angelini, Corrado; Hirano, M; Naini, Ab; Navas, P; Dimauro, S; Montini, G.

Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.

Titolo:	Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
Autori:	SALVIATI, LEONARDO SACCONI S MURER L ZACCHELLO G FRANCESCHINI L LAVERDA AM BASSO, GIUSEPPE QUINZII C ANGELINI, CORRADO HIRANO M NAINI AB NAVAS P DIMAURO S MONTINI G. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2005
Rivista:	NEUROLOGY
Abstract:	Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.
Handle:	http://hdl.handle.net/11577/2439234
Appare nelle tipologie:	01.01 - Articolo in rivista

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