De Vivo disease

The De Vivo disease is controlled by the SLC2A1,solute carrier family 2 member 1, gene.

Genetic defects in glucose transporter type 1 (GLUT1) appears to be the primary cause of De Vivo disease.

The diseases, Pyruvate dehydrogenase deficiency and De Vivo disease prevent the body from using carbohydrate as fuel, which leads to a dependency on ketone bodies.

Mutations in the GLUT1 gene are responsible for GLUT1 deficiency or De Vivo disease, which is a rare autosomal dominant disorder.

De Vivo disease (also known as GLUT1 deficiency syndrome) is a rare condition caused by inadequate transportation of the sugar, glucose, across the blood-brain barrier, resulting in developmental delays and other neurological problems.

De Vivo disease is an autosomal dominant developmental disorder associated with a deficiency of GLUT1 also known as Glucose transporter type 1 deficiency syndrome (GLUT1-DS)

De Vivo disease is characterized by deceleration of head growth also known as microcephaly, mental and motor developmental delays, infantile seizures refractory to anticonvulsants, ataxia, dystonia, dysarthria, opsoclonus, spasticity, and other paroxysmal neurologic phenomena.

A glucose level of less than one third of blood glucose levels in association with low CSF lactate levels is typical in hereditary CSF glucose transporter deficiency also known as De Vivo disease.