What causes Leigh's Disease?

Leigh's Disease is caused by genetic mutations that disrupt mitochondrial function and cellular energy production. These mutations affect enzymes in the mitochondrial respiratory chain, particularly those involved in pyruvate dehydrogenase complex and cytochrome c oxidase. Thiamine metabolism dysfunction can also contribute to the development of this condition, as thiamine is essential for proper energy metabolism in the brain and nervous system.

What is the best blood test for Leigh's Disease?

The Vitamin B1 (Thiamine) LC/MS/MS test is the most important blood test for Leigh's Disease because it detects thiamine deficiencies or metabolism dysfunction that may contribute to neurological symptoms. This advanced test uses liquid chromatography with tandem mass spectrometry to provide highly precise measurements of thiamine levels. While Leigh's Disease requires comprehensive genetic testing and neuroimaging for diagnosis, identifying and correcting thiamine abnormalities is an essential component of supportive care and may help manage symptoms.

When should I get tested for Leigh's Disease?

You should get tested if your infant or young child shows signs of progressive developmental delays, loss of previously acquired skills, poor muscle tone, or difficulty feeding and breathing. Testing is especially important if there is a family history of Leigh's Disease or unexplained infant deaths. Early identification of metabolic factors like thiamine deficiency can help guide supportive treatment and nutritional interventions, even though the underlying genetic condition requires specialized evaluation.

What are the symptoms of Leigh's Disease?

Leigh's Disease symptoms typically appear between 3 months and 2 years of age and include loss of head control, poor sucking ability, loss of appetite, vomiting, and seizures. Children may experience progressive loss of mental and movement abilities, muscle weakness, breathing problems, and vision or hearing loss. Some children may also develop heart problems, kidney dysfunction, and distinctive brain abnormalities visible on MRI scans. The progression is usually rapid and severe.

Who is at risk for Leigh's Disease?

Leigh's Disease affects approximately 1 in 40,000 newborns and occurs when both parents carry a mutation in the same gene responsible for the condition. Children with a family history of Leigh's Disease or unexplained infant deaths are at higher risk. Consanguineous marriages increase the likelihood of both parents carrying the same genetic mutation. While the disease affects all ethnicities, certain populations may have higher carrier rates for specific mutations.

What happens if Leigh's Disease is left untreated?

Untreated Leigh's Disease typically leads to rapid neurological decline, with most children dying within 2 to 3 years of symptom onset, usually from respiratory failure. The progressive loss of brain function results in complete loss of motor skills, inability to swallow or breathe independently, and severe developmental regression. While there is no cure, early identification and supportive treatment including nutritional interventions can potentially slow progression and improve quality of life. Without proper medical management, complications become life-threatening quickly.

Can Leigh's Disease be diagnosed with a blood test?

Leigh's Disease cannot be diagnosed by blood tests alone, but requires a combination of clinical evaluation, brain MRI showing characteristic lesions, and genetic testing to identify specific mutations. However, blood tests like the Vitamin B1 (Thiamine) LC/MS/MS are crucial for identifying metabolic factors that may contribute to the condition. Additional blood tests may measure lactate levels, amino acids, and organic acids to assess mitochondrial function and guide treatment decisions.

How is Leigh's Disease treated?

Leigh's Disease treatment focuses on managing symptoms and providing supportive care, as there is no cure for the underlying genetic condition. Thiamine supplementation may help in cases where thiamine metabolism is affected. Other treatments include medications to control seizures, feeding tubes for nutrition, respiratory support, and physical therapy. Some children may benefit from specific vitamin cocktails including riboflavin, coenzyme Q10, and carnitine to support mitochondrial function.

How can I prevent Leigh's Disease?

Leigh's Disease cannot be prevented as it is an inherited genetic condition, but genetic counseling and carrier testing can help families understand their risk before having children. Prenatal genetic testing and preimplantation genetic diagnosis are available for couples known to carry mutations. If you have a family history of Leigh's Disease, consulting with a genetic counselor before pregnancy allows for informed reproductive decisions and early intervention planning if needed.

What can I do at home to support a child with Leigh's Disease?

At home, focus on providing a safe environment with minimal physical hazards and maintaining consistent nutrition through prescribed feeding methods. Work closely with your medical team to administer prescribed supplements like thiamine, coenzyme Q10, or other vitamins consistently. Monitor for signs of respiratory distress or seizures and have emergency protocols in place. Gentle physical stimulation within the child's tolerance, maintaining a calm environment, and connecting with support groups can help families cope with the emotional challenges of caring for a child with this progressive condition.

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Leigh's Disease Blood Test | Private MD Labs

Leigh's Disease Blood Test

What is Leigh's Disease?

Leigh's Disease is a severe progressive neurological disorder that typically appears in the first year of life, characterized by loss of mental and movement abilities. It is caused by genetic mutations affecting mitochondrial energy production and thiamine metabolism dysfunction. The Vitamin B1 (Thiamine) LC/MS/MS test is the most important blood test for identifying thiamine deficiencies that may contribute to this condition.

Written by Private MD Labs Medical Team

Last updated: December 30, 2025

Getting your blood test with us is easy, private & backed by the power of science.

Long story short:

In the test options, use the filters or search box to narrow your choices and find the test you want.
If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!

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