Table 5. [Treatment of Manifestations in Individuals with Primary Pyruvate Dehydrogenase Complex Deficiency]. - GeneReviews®

Manifestation	Treatment	Comments
Dystonia (paroxysmal)	Minimize stressors (e.g., fever). Benzodiazepines
Dystonia (chronic)	Botulinum toxin injections
Spasticity	PT, OT
Seizures	Ketogenic diet Standard anti-seizure therapy as needed ¹
Ataxia	Vestibular therapy
Inadequate nutrition	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 correction	Metabolic 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
Psychiatric manifestations	Standard psychiatric care; may be responsive to ↑ ketosis

Manifestation

Treatment

Comments

Dystonia
(paroxysmal)

Minimize stressors (e.g., fever).
Benzodiazepines

Dystonia (chronic)

Botulinum toxin injections

Spasticity

PT, OT

Seizures

Ketogenic diet
Standard anti-seizure therapy as needed ¹

Ataxia

Vestibular therapy

Inadequate
nutrition

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 correction

Metabolic 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

Psychiatric
manifestations

Standard psychiatric care; may be responsive to ↑ ketosis

From: Primary Pyruvate Dehydrogenase Complex Deficiency Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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