Sengers syndrome

A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheri

A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.

Signs and symptoms

• Depletion of mitochondrial DNA in muscle tissue
• Cataract
• Lactic acidosis
• Decreased activity of mitochondrial complex III
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Premature ovarian insufficiency
• Strabismus
• Cardiac arrest
• Myopathy

Also known as: mitochondrial DNA depletion syndrome 10; mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)