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.

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition / L. Salviati, S. Sacconi, L. Murer, G. Zacchello, L. Franceschini, A.M. Laverda, G. Basso, C. Quinzii, C. Angelini, M. Hirano, A.B. Naini, P. Navas, S. Dimauro, G. Montini. - In: NEUROLOGY. - ISSN 0028-3878. - 65:4(2005 Aug), pp. 606-608.

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

G. Montini
Ultimo
2005

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.
coenzyme Q(10) deficiency; mitochondrial encephalomyopathy; cerebellar-ataxia
Settore MED/38 - Pediatria Generale e Specialistica
ago-2005
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/432496
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