Table 5.

Treatment of Manifestations in Individuals with Primary Pyruvate Dehydrogenase Complex Deficiency

  • Minimize stressors (e.g., fever).
  • Benzodiazepines
Dystonia (chronic) Botulinum toxin injections
Spasticity PT, OT
  • Ketogenic diet
  • Standard anti-seizure therapy as needed 1
Ataxia Vestibular therapy
  • Nasogastric tube or gastrostomy tube
  • Feeding therapy w/speech therapist
Many persons require gastrostomy tube to achieve & maintain a ketogenic diet.
Optic atrophy Low-vision support for educational settings
Acidosis Bicarbonate or buffer therapy (e.g. citrate, acetate) for correctionMetabolic acidosis may be secondary to lactic acidosis or ketogenic diet. In persons w/significant lactic acidosis, ketogenic diet may be helpful; however, care needs to be taken to buffer acid/base status before acutely initiating the ketogenic diet. Continue monitoring of acid/base status while on ketogenic diet.
Hip dysplasia Surgical correction or supportive bracing
Standard psychiatric care; may be responsive to ↑ ketosis

OT = occupational therapy; PT = physical therapy


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 Pyruvate Dehydrogenase Complex Deficiency Overview

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