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

Neurology. 2005 Aug 23;65(4):606-8. doi: 10.1212/01.wnl.0000172859.55579.a7.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Atrophy / etiology
  • Atrophy / pathology
  • Atrophy / physiopathology
  • Brain / drug effects
  • Brain / pathology
  • Brain / physiopathology
  • Child, Preschool
  • Coenzymes
  • Creatinine / blood
  • Disease Progression
  • Early Diagnosis
  • Electron Transport / drug effects
  • Electron Transport / genetics
  • Female
  • Humans
  • Infant
  • Kidney Diseases / etiology*
  • Kidney Diseases / physiopathology
  • Kidney Diseases / prevention & control*
  • Magnetic Resonance Imaging
  • Male
  • Mitochondria / drug effects
  • Mitochondria / metabolism
  • Mitochondrial Encephalomyopathies / complications*
  • Mitochondrial Encephalomyopathies / drug therapy*
  • Mitochondrial Encephalomyopathies / metabolism
  • Muscle, Skeletal / drug effects
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Recovery of Function / drug effects
  • Recovery of Function / physiology
  • Treatment Outcome
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / deficiency
  • Ubiquinone / therapeutic use

Substances

  • Coenzymes
  • Ubiquinone
  • Creatinine
  • coenzyme Q10