| Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. | |
| | |
MedLine Citation:
|
PMID: 16116126 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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 |
Related Documents
:
|
2797556 - Remission induced by chlorambucil in steroid-responsive, frequently relapsing nephrotic... 15909446 - Nephrotic syndrome associated with administration of sulfadimethoxine/ormetoprim in a d... 12002366 - Acquired cystic kidney disease following long-term peritoneal dialysis for congenital n... 16878436 - Successful therapeutic use of rituximab in refractory membranous glomerulonephritis. 5328216 - Colicine k. vii. the transfer to type k colicinogeny to shigella sonnei. 7395906 - The van der woude syndrome in a large kindred: variability, penetrance, genetic risks. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: Neurology Volume: 65 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2005 Aug |
Date Detail:
|
Created Date: 2005-08-23 Completed Date: 2006-01-23 Revised Date: 2012-04-16 |
Medline Journal Info:
|
Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
|
Languages: eng Pagination: 606-8 Citation Subset: AIM; IM |
Affiliation:
|
Università di Padova, Via Giustiniani 3, 35128 Padova, Italy. leonardo.salviati@unipd.it |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Atrophy
/
etiology,
pathology,
physiopathology Brain / drug effects, pathology, physiopathology Child, Preschool Coenzymes Creatinine / blood Disease Progression Early Diagnosis Electron Transport / drug effects, genetics Female Humans Infant Kidney Diseases / etiology*, physiopathology, prevention & control* Magnetic Resonance Imaging Male Mitochondria / drug effects, metabolism Mitochondrial Encephalomyopathies / complications*, drug therapy*, metabolism Muscle, Skeletal / drug effects, pathology, physiopathology Recovery of Function / drug effects, physiology Treatment Outcome Ubiquinone / analogs & derivatives*, deficiency, therapeutic use |
| Grant Support | |
ID/Acronym/Agency:
|
C.54//Telethon; HD32062/HD/NICHD NIH HHS; NS11766/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Coenzymes; 1339-63-5/Ubiquinone; 303-98-0/coenzyme Q10; 60-27-5/Creatinine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
Next Document: Do all young ischemic stroke patients need long-term secondary preventive medication?