Table 3.

Primary Coenzyme Q10 Deficiency: Treatment of Manifestations by Phenotype

Manifestation/ConcernTreatmentConsiderations/Other
Fatal Neonatal Encephalopathy Phenotype
Nutrition/Feeding By feeding team incl nutritionist, gastroenterologistNasogastric tube, gastrostomy tube
Steroid-resistant nephrotic syndrome Per treating nephrologist
  • See Steroid-Resistant Nephrotic Syndrome Overview, Management.
  • ACE inhibitors may be used in combination w/CoQ10 supplementation in persons w/proteinuria. 1
  • Kidney transplantation is an option for those w/ESKD. 2
Respiratory insufficiency Per treating pulmonologistMay incl consideration of tracheostomy & artificial ventilation
Neuromuscular Physical therapy
  • To maintain muscle strength & mobility & prevent contractures
  • Consider need for adaptive positioning devices.
Seizures Standard treatment w/ASM by experienced neurologist based on seizure semiology
  • Certain ASMs require monitoring of medication levels.
  • Education of parents/caregivers 3
Sensorineural
hearing loss 		By hearing loss specialistsSee Genetic Hearing Loss Overview.
Cardiomyopathy Per standard treatment protocols
Retinopathy Per treating ophthalmologist & low vision services
Other Neurologic Phenotypes
Peripheral neuropathy See Charcot-Marie-Tooth Hereditary Neuropathy Overview.
Cerebellar ataxia See Hereditary Ataxia Overview.
Dystonia According to standard care
Spasticity

ASM = anti-seizure medication

1.
2.
3.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Primary Coenzyme Q10 Deficiency Overview

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