What is the definition of Sengers Syndrome?

Sengers syndrome is a rare autosomal recessive mitochondrial (cells that create energy) depletion disorder that causes a loss of function of the acylglycerol kinase (AGK) gene that is responsible for maintaining mitochondrial DNA, resulting in infants that are born with congenital cataracts, hypertrophic cardiomyopathy (thickening of heart muscle; HOCM), skeletal myopathy, and lactic acidosis.

What are the symptoms for Sengers Syndrome?

The hallmark symptom of Sengers syndrome is the appearance of congenital cataracts in an infant in the first few weeks of life, along with the development of progressive hypertrophic cardiomyopathy (thickening of heart muscle and heart failure), skeletal myopathy, and lactic acidosis. Additional symptoms may include generalized hypotonia (lack of muscle tone), exercise intolerance, and delayed motor development. Some children with Sengers syndrome may have mental retardation.

What are the current treatments for Sengers Syndrome?

If untreated, the progressive hypertrophic cardiomyopathy associated with Sengers syndrome can be fatal in the first few weeks of life. Some patients may be treated with heart transplantation. The cataracts associated with Sengers syndrome may require surgical removal. Children with Sengers syndrome may have normal mental development if the lactic acidosis is treated with oxygen and intravenous fluids.

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