Mitochondrial Complex Iii Deficiency Nuclear Type 5 C3554608
A rare genetic condition that impairs the mitochondria's ability to generate energy in cells. Typically presents in infancy or early childhood. Management involves symptom control and metabolic support.
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
Encephalopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Muscle fatigue
(musculoskeletal)Intermittent hypoglycemia
(metabolic)Hepatic dysfunction
(hepatobiliary)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
Exercise Tolerance Testing
Serial cardiopulmonary exercise testing to objectively assess functional capacity, monitor disease progression, and guide activity recommendations.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Idebenone Therapy
Administration of idebenone, a synthetic analog of CoQ10, to bypass complex III deficiency and support mitochondrial electron transfer.
Additional treatment options
Glycemic-Sensitive Meal Planning
Implementation of dietary strategies emphasizing complex carbohydrates and glycemic control to minimize metabolic stress and lactate production.
dietaryCardiac Device Implantation
Pacemaker or defibrillator placement for patients with complex III-related cardiac conduction abnormalities or arrhythmia.
surgicalInterval Training Protocol
Supervised interval training combining short periods of activity with rest periods to maintain cardiovascular fitness while avoiding metabolic exhaustion.
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 Mitochondrial Complex Iii Deficiency Nuclear Type 5 C3554608?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy