Leigh syndrome is a neurometabolic disorder that affects the central nervous system. Treatment to manage the condition involves supplements and diet changes.

While there is no cure for Leigh syndrome, treatments can manage life threatening symptoms.

People with this condition have genetic mutations in their DNA. These mutations hinder energy sources for brain cells that control motor movements, which leads to the loss of motor skills and appetite and causes seizures. The symptoms may start mild and then progress. However, treatments can slow the progression.

This article discusses the most common treatment for Leigh syndrome, other treatments available, and whether the condition is curable. It also looks at how someone can help a child with Leigh syndrome and answers some frequently asked questions.

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The current gold-standard treatment for Leigh syndrome is supplementation with thiamine, which is vitamin B1. This is because the condition involves a mutation that causes a thiamine transporter-2 deficiency, an inherited defect due to mutations in certain genes.

Vitamin B1 helps the body convert food into energy. A thiamine deficiency leads to the symptoms of Leigh syndrome, such as:

Supplementing with thiamine prevents these symptoms. The recommended dose ranges from 10 milligrams (mg) per kilogram daily for children and 100–1,000 mg per day for adults.

Leigh syndrome can also cause the buildup of lactate in the body, and this can even collect in the fluid that protects the brain.

If a blood or urine analysis indicates a buildup of lactate, a doctor may prescribe oral sodium bicarbonate or sodium citrate, which are examples of electrolytes. These medications help balance the acid in the body and prevent kidney issues.

Scientists are also researching dichloroacetate, a type of acid, to determine whether it can treat lactic acidosis.

For people who inherited Leigh syndrome in a recessive pattern through the X chromosome, a high fat and low carbohydrate diet may also help. This is because people with X-linked Leigh syndrome have mutations in a gene that helps control cell metabolism.

There is no cure for Leigh syndrome, but supplementation with vitamin B1 has an immediate positive effect, especially when doctors prescribe it early.

Although treatments can help, children with this inherited condition typically pass away within 2–3 years from respiratory failure. However, people who experience adult on-set Leigh syndrome may experience a slower progression.

Closely overseeing a child’s care plan for Leigh syndrome is important, and so is keeping them as comfortable as possible. Administering all medications as a doctor has prescribed is crucial, as well as following any suggested diet changes.

Parents or caregivers of children with Leigh syndrome can also request a medical identification bracelet and an emergency letter from a pediatrician for guidance on emergency care.

To help researchers work toward a cure, the National Institute of Neurological Disorders and Stroke encourages participation in a clinical trial.

Treatment for Leigh syndrome often involves a multidisciplinary medical team, including a primary care physician, neurologist, cardiologist, and eye specialist. This team works together to support the individual and manage any complications that may occur.

Below are answers to common questions about Leigh syndrome.

What happens to someone with Leigh syndrome?

Leigh syndrome leads to rapid deterioration of motor skills and is usually fatal within 2–3 years in infants.

An inherited genetic mutation causes the condition, and symptoms include:

  • vomiting
  • loss of head movement
  • fatigue
  • loss of appetite

How does vitamin B1 help with Leigh syndrome?

Leigh syndrome causes a vitamin B1 deficiency, which hinders the body’s ability to convert food into energy. High dose supplementation with B1 can provide instant improvement in symptoms. The recommended dosage depends on a person’s body weight.

While there is no cure for Leigh syndrome, several treatment options aim to manage its life threatening symptoms, such as motor skill loss, seizures, and reduced appetite. These symptoms, which are initially mild, worsen over time, but treatments can slow their progression.

The primary treatment is high dose thiamine supplementation due to the thiamine transporter-2 deficiency in Leigh syndrome. Thiamine helps restore energy production, preventing muscle weakness, fatigue, and appetite loss.

Additionally, Leigh syndrome can result in lactate accumulation, but oral sodium bicarbonate or sodium citrate supplementation can restore the acid balance. A high fat, low carb diet may be beneficial for those with X-linked Leigh syndrome.

Most children with this condition face a limited life expectancy, typically passing away within 2–3 years due to respiratory failure, while adult-onset cases progress more slowly. To support a child with Leigh syndrome, close care management, medication adherence, and following a prescribed diet are crucial.