Leigh Syndrome

Leigh Disease; infantile subacute necrotizing


Most commonly Autosomal recessive, X-Linked in a small number of cases

Inheritance from both parents will result in the disease, unless X-linked where inheritance is maternal

Age range at onset:

Age range at onset: Up to 1 year (a small number develop symptoms in later childhood or in adulthood)

Specialists you may see:


Leigh syndrome (also known as Leigh disease) is a mitochondrial disease that affects approximately 1 in 40,000 newborns. It is a severe neurological condition that typically affects development of movement, posture and mental abilities. Onset is usually between the ages of 3 months and 2 years but in rare cases may begin in late adolescence or early adulthood. Although Leigh Syndrome primarily affects the brain, symptoms can be wide ranging and it is not uncommon to see other organs or systems involved including the heart, muscle, lungs, eyes, nervous system or gastrointestinal tract.

It is estimated that approximately 20% of cases of Leigh syndrome include leukodystrophy/white matter disease.



Leigh Syndrome can be caused by over 100 different genetic mistakes (mutations) found in either the nuclear or mitochondrial DNA and so it can be inherited in many different ways. The mutations which cause Leigh Syndrome disrupt protein complexes in this process, reducing or preventing their activity. All of the mutations disrupt the process of energy production by the mitochondria. One of the main jobs of mitochondria is to convert energy in food (carbohydrates and fats) into a form that can be used by the cell.

For more detailed information please visit our friends, The Lily Foundation, who have specific expertise in mitochondrial conditions such as Leigh Syndrome.