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Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
- Source :
- Neurology. 65:606-608
- Publication Year :
- 2005
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 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.
- Subjects :
- Male
medicine.medical_specialty
Pediatrics
Ubiquinone
Encephalopathy
Coenzymes
Nephropathy
Electron Transport
Mitochondrial Encephalomyopathies
PDSS2
Internal medicine
COQ6
medicine
Humans
Muscle, Skeletal
business.industry
Brain
Infant
Recovery of Function
medicine.disease
Magnetic Resonance Imaging
Mitochondria
Early Diagnosis
Treatment Outcome
Endocrinology
Child, Preschool
Creatinine
Disease Progression
Female
Kidney Diseases
Neurology (clinical)
Atrophy
Coenzyme Q10 deficiency
business
Nephrotic syndrome
Kidney disease
Subjects
Details
- ISSN :
- 1526632X and 00283878
- Volume :
- 65
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....f528b5fe9105c5196240d3ccfe898beb