Alpers Syndrome, also known as Alpers-Huttenlocher Syndrome, is an inherited genetic illness that affects the production of energy on a cellular level. Alpers is one of many mitochondrial illnesses and can be diagnosed with a DNA test of the POLG1 gene. Parents of children with Alpers do not develop the illness because they carry a dominant, healthy POLG1. However, they also possess a mutation of the gene which can be unknowingly passed on to their child. Alpers occurs only in children who receive the recessive gene from both parents. For parents who both have the recessive gene, there is a 1 in 4 chance of a child having Alpers. Sadly, there is currently no treatment or cure.
During the course of the illness, the amount of mitochondrial DNA in the cell (its “powerhouse”) falls below a critical threshold of about 35% of normal. When this happens the mitochondria become sick and begin to misfire, severely affecting the body’s organ systems by denying them the energy needed to function properly. This leads to mental deterioration, liver failure, respiratory failure, blindness, and death.
There are 3 classic symptoms:
- Seizures that are very difficult to treat
- Loss of developmental milestones
- Liver disease
Children develop normally for a period of time with 80% developing symptoms within the first two years of life. Although liver disease is often unnoticeable in the early stages of the disease, it may appear at any time as acute liver failure.
Alpers has a frequency of about 1 in every 50,000 live births. As many as 1 in 110 individuals may be carriers of the Alpers gene. Many affected children die before an accurate diagnosis is made, so the true frequency remains an estimate.
Alpers Syndrome can be detected through pre-conception and prenatal genetic testing, enabling parents who may be carriers to conceive babies who are free from Alpers.
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