Alpers' disease

The Alpers - Huttenlocher syndrome (abbreviated AHS ) is a mostly occurring in infancy degenerative disease.

Other names of this disease are Alpers syndrome, progressive neuronal degeneration of childhood with liver disease and progressive sclerosing Poliodystrophie Alpers. It was named after the two U.S. American neurologist Bernard Jacob Alpers and Peter R. Huttenlocher.

The Alpers - Huttenlocher syndrome is defined as a " Cerebro - hepatopathy with loss of mitochondrial DNA and the symptom triad Psychomotor regression - cramps - liver disease ", simply put a kind of weakening of the neural pathways in the brain associated with impairment of physical mobility and a strong weakening of the immune system.

The disease starts after a normal development in the first weeks of life almost always in infancy. Initial symptoms may be epileptic seizures, vomiting and poor feeding, gait disturbances and a weakening of the muscles ( myopathy). Inter alia, only difficult to control epileptic seizures, a disease of the liver and an early death are characteristic of the later course of the disease.

The cause of the disease is an autosomal recessive defect in the mitochondria (mutations in the mitochondrial polymerase gamma gene), which leads to an energy metabolism disorder. Therefore most metabolically active organs such as the liver, skeletal muscles and the brain are affected. The probability that a child gets this disease is between one hundred thousandth and one-quarter millionth, and thus is considered rare.