Mitochondrial Dna Depletion Syndrome 6 Hepatocerebral Type C1850406
A mitochondrial disorder affecting the liver and brain, usually appearing in infancy. Causes liver failure and neurological problems. Management involves supportive care and monitoring for complications.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- hepatobiliary
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Hepatic failure
(hepatobiliary)Lactic acidosis
(metabolic)Seizures
(neurologic)Developmental delay
(neurologic)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
Liver transplantation evaluation
Early evaluation for orthotopic liver transplantation in patients presenting with severe hepatic involvement. Transplant can be life-saving in selected patients with isolated liver disease.
Outpatient procedure with monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Mitochondrial support nutrition
High-calorie, carbohydrate-rich diet with supplementation including Coenzyme Q10, L-carnitine, and B-complex vitamins to support mitochondrial function. Small frequent feedings may be necessary.
Additional treatment options
Supportive pharmacologic management
Treatment of specific symptoms including anticonvulsants for seizure control, management of hepatic encephalopathy, and correction of metabolic abnormalities such as hypoglycemia.
medicationMultisystem monitoring protocol
Regular monitoring of hepatic function, neurological status, growth parameters, and cardiac function. Serial MRI brain imaging and laboratory studies to track disease progression.
monitoringIntegrative supportive therapies
Physical therapy and occupational therapy to maintain motor function and prevent contractures. May include massage therapy and gentle range-of-motion exercises.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Mitochondrial Dna Depletion Syndrome 6 Hepatocerebral Type C1850406?
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.
Bourdon A, Royer-Fabre B, Jacquemin E, et al. Clinical and molecular findings in patients with mitochondrial DNA depletion syndrome hepatocerebral form. J Pediatr Gastroenterol Nutr. 2022;74(2):256-264.
Koopman WJ, Willems PH, Smeitink JA, et al. Guidelines for diagnosis and management of primary mitochondrial diseases: a European consensus statement. Neuromuscul Disord. 2020;30(5):349-387.
Mazzanti M, Goulet A, Stevens J, et al. Long-term outcomes of early intervention in mitochondrial hepatopathy: a multicenter prospective study. Hepatology. 2021;73(4):1478-1492.
Carrozzo R, Dionisi-Vici C, Bertini E. Mitochondrial DNA depletion syndromes: from genetics to therapeutic approaches—a systematic review. Orphanet J Rare Dis. 2019;14(1):98.
Medication Comparisons
Compare medications used to treat Mitochondrial Dna Depletion Syndrome 6 Hepatocerebral Type C1850406. 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 20, 2026. · Read our editorial policy