Mitochondrial disease - NYSORA

Explore NYSORA knowledge base for free:

Home  ❯  Anesthesia • Anesthesia Manual • Mitochondrial disease • Pediatrics  ❯  Mitochondrial disease
Close
Table of Contents

Mitochondrial disease

Learning objectives

  • Describe the clinical features of mitochondrial disease
  • Diagnose and treat mitochondrial disease
  • Manage patients with mitochondrial disease presenting for surgery

Background

  • Mitochondrial disease refers to a group of genetic disorders affecting the mitochondria 
  • Results in complex multisystem disease with varying degrees of severity
  • Can present with a wide range of symptoms 
  • Organs and tissues that have a high ATP turnover are proportionally affected
  • Associated with elevated lactate levels

Clinical features 

SystemFeatures
Neurological/myopathicDevelopmental delay
Regression
Weakness
Fatigability
Hypotonia
Spasticity
Ataxia
Seizure disorders
CardiovascularCardiomyopathy
Conduction abnormalities
RespiratoryCentral hypoventilation/apnea
Respiratory muscle weakness
OphthalmicOphthalmoplegia
Retinal depigmentation
Optic atrophy
RenalRenal insufficiency
HepaticHepatic insufficiency
MetabolicIntermittent/persistent lactic acidemia
EndocrineDiabetes mellitus
Hypoparathyroidism
HematologicalMacrocytic anemia
Neutropenia
Thrombocytopenia

Diagnosis

Diagnostic testSigns of mitochondrial disease
Genetic testingGenetic defects affecting the mitochondria
Muscle biopsyRagged-red fibers
cytochrome C-oxidase negative fibers
Biochemical analysisElevated lactate levels
Brain MRIStrokelike lesions in nonvascular distributions
Diffuse white matter disease
Bilateral
involvement of deep grey matter nuclei in the basal ganglia, mid-brain and/or brainstem
Lactate doublet

Treatment

  • Not curative, treatment is largely supportive
  • Exercise improves symptoms and increases mitochondrial content and oxygen uptake
  • Nutritional supplementation of multiple vitamins and cofactors including:
    • Coenzyme Q10
    • Alpha-lipoic acid
    • L-carnitine
    • Creatine
    • B-vitamins

Management

mitochondrial disease, fatigability, dysphagia, hypoventilation, apnea, cardiomyopathy, heart block, blood count, electrolytes, creatinine, urea, glucose, lactate, pyruvate, creatine kinase, spirometry, ecg, echocardiogram, fasting, hypoglycemia, metabolic stress, hypotension, hypoxia, acisosis, hypovolemia, ketogenic, hyperglycemia, lactic acidosis, volatile, propofol, neuromuscular blockers, succinylcholine, depolarizing, local anesthetics, opioids, regional techniques

 

Suggested reading

  • Desai, V. (2021). Mitochondrial disease and anaesthesia : WFSA – resources. Mitochondrial Disease and Anaesthesia. Retrieved February 16, 2023, from https://resources.wfsahq.org/atotw/mitochondrial-disease-and-anaesthesia/. 
  • Hsieh VC, Krane EJ, Morgan PG. Mitochondrial Disease and Anesthesia. Journal of Inborn Errors of Metabolism and Screening. 2017;5:2326409817707770.
  • Niezgoda J, Morgan PG. Anesthetic considerations in patients with mitochondrial defects. Paediatr Anaesth. 2013;23(9):785-793.

We would love to hear from you. If you should detect any errors, email us customerservice@nysora.com