​Mitochondrial Disorders

Mitochondrial disorders are commonly seen in infants. However, they can occur at any time of your child’s life. Mitochondrial disease includes a heterogeneous group of diseases which occur due to damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve organs which are high-energy dependent like brain, muscles, heart and eyes. However, any organ can be involved. Often there is multi-system involvement. Prognosis and treatment is usually as per the progression of the disease. Some case can be mild, whereas a few others can potentially result in death.​

The symptoms of a mitochondrial disorder in a child will be based on the organ involved. There are certain “red flags” which should immediately increase the suspicion of a mitochondrial disorder. These include:

  • short stature, 

  • neurosensory hearing loss,

  • progressive external ophthalmoplegia, 

  • axonal neuropathy,

  • diabetes mellitus,

  • cardiomyopathy

  • myopathy and hypotonia

  • renal tubular acidosis

Other symptoms include: 

  • muscle weakness

  • exercise intolerance, 

  • heart failure

  • dementia, 

  • movement disorders, 

  • stroke-like episodes​

  • deafness

  • blindness,

  • droopy eyelids

  • limited mobility of the eyes

  • Vomiting and seizures.​

Inform your doctor at the Children’s Hospital Service Line at The Aga Khan University Hospital if you see any of the above symptoms in your child. Your doctor will be able to guide you through the prognosis and suggest related treatment​.
Your time with your doctor may be limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started​.

Common diagnostic tests and indicators of MD include:  

  • The most common abnormality that is visible in a child who has a Mitochondrial Disorder is Lactic Acidosis.

  • Evaluation of the Cerebrospinal Fluid. This includes cell count, protein, glucose, amino acids and lactate. All these chemical along with White blood cells are elevated in a child who is suffering from one of these disorders.

  • Spectroscopy to see if lactate is detected in the brain via proton. This is otherwise not detected in normal brain functioning.

  • Muscle pathology to check the health of the muscles

  • Brain imaging can be done, that may indicate an abnormality in the brain. This can however, appear very normal, even if though your child is suffering from Mitochondrial disorder.

  • Complex molecular tests are often needed.​

  • Although there is no specific treatment for most of the mitochondrial myopathies and treatment is mostly supportive to improve the quality of life. ​

  • Vitamin therapies may lead to improvement in your child’s experience of fatigue and also elevate energy levels in certain forms of mitochondrial disorders.​

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.​

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.​

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage.



The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.​