De Vivo Disease is a dominant developmental disorder that is also autosomal, and is associated with a deficiency of a glucose transporter type 1 deficiency syndrome known as GLUT1-DS. It is primarily characterized by the slowing down of head growth, known as micocephaly, as well as mental and motor developmental delays that can significantly affect an infant’s quality of life.
Additionally, issues relating to seizures, ataxia, and other infant-related disorders characterize it. Seizures are associated with the disorder as children grow, and they can vary in frequency and intensity as well as show a history of decreasing frequency over time. Developmental delays are often the most significant issues associated with De Vivo Disease.
The causes of De Vivo Disease are completely and exclusively genetic, as it is associated with a deficiency of a glucose transporter type 1 deficiency syndrome known as GLUT1-DS. The SLC2A1 solute carrier from family 2 and member 1 in the genes controls the disease. As a result of this genetic shortcoming, the disease creates far less glucose available for the head and body than is necessary for full and complete growth and health.
Because the causes are genetic, not much is known about how to prevent them, or impact the genes in a way that will prevent De Vivo Disease in infants and newborns. And while newborns are born with no problems when they have the disease, the disease typically manifests itself and causes problems after birth, at which point it can be difficult to control and manage.
The symptoms of De Vivo Disease manifest themselves in the slowing down of growth of the head, relative to the body, making obvious the presence of some sort of genetic or medical issues. Additionally, De Vivo Disease is characterized by developmental delays that can impact a person’s ability to learn, react, and even move in a normal way. These developmental delays and disorders can significantly harm the quality of life and future of infants affected by De Vivo Disease.
It is imperative that the medical community learns more about De Vivo Disease, as this issue severely affects young people after birth to the point that they do not have a full, enjoyable quality of life. Because it is a genetic disorder, there are no clear solutions to what is typically a very difficult disease to diagnose until it is already prevalent and showing signs and symptoms.