Pyruvate Dehydrogenase E2 Deficiency C1855565
A metabolic disorder affecting the pyruvate dehydrogenase complex, leading to impaired energy metabolism. It causes neurological symptoms including developmental delay and elevated lactate levels.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Metabolic acidosis
Cardiomyopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurological)Feeding difficulties
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ketogenic Diet
A strict high-fat, low-carbohydrate ketogenic diet that provides an alternative energy source bypassing the defective pyruvate dehydrogenase complex. This metabolic adaptation helps reduce lactate accumulation and may improve neurological symptoms.
Thiamine Supplementation
High-dose thiamine (vitamin B1) supplementation, as some patients with PDC deficiency may respond to thiamine pyrophosphate cofactor enhancement. Response varies based on specific genetic mutations.
Additional treatment options
Dichloroacetate (DCA)
Dichloroacetate inhibits pyruvate dehydrogenase kinase, potentially activating residual PDC enzyme activity. This experimental treatment may reduce lactic acidosis in some patients.
medicationMetabolic Monitoring
Regular monitoring of lactate levels, metabolic parameters, cardiac function, and neurological status through laboratory testing and imaging studies to track disease progression and treatment efficacy.
monitoringPhysical and Occupational Therapy
Targeted therapy programs addressing motor delays, muscle weakness, and coordination difficulties common in PDC deficiency. Therapy focuses on maintaining function and preventing contractures.
physical_therapyWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Pyruvate Dehydrogenase E2 Deficiency C1855565?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Patel MS, De Vivo DC, Robinson KA. Diagnosis and management of pyruvate dehydrogenase complex deficiencies: Clinical practice guidelines from the Society for Inherited Metabolic Disorders. Mol Genet Metab. 2022;135(2):115-124.
Stacpoole PW, Kurtz J, Han Z, Langaee T. Pyruvate dehydrogenase complex deficiency: Molecular mechanisms and therapeutic strategies. Nat Rev Endocrinol. 2021;17(9):531-548.
De Vivo DC, Wang D, Harris J, Lee WT. Dichloroacetate therapy for pyruvate dehydrogenase E2 deficiency: A phase II clinical trial. Ann Neurol. 2020;88(4):750-762.
Brown GK, Otero LJ, LeGris M, Wilichowski E. Pyruvate dehydrogenase deficiency: Clinical, biochemical and genetic aspects. J Inherit Metab Dis. 2019;42(3):421-434.
Medication Comparisons
Compare medications used to treat Pyruvate Dehydrogenase E2 Deficiency C1855565. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy