Deficit as a conveyer of glucose of the type 1

The deficit as a conveyer of glucose of the type 1 is a recently individualized Genetic disease appearing at a Nouveau-né, resulting from a Grossesse without characteristic and from a standard weight, by crises of infantile epilepsy S resistant to the treatment anti-convulsivant. The disease occurs between one and four months of life preceding a deceleration by the growth of the cranial perimeter, a delay driving development, a spasticity and neurological demonstrations paroxysmic.

Apneic episodes and abnormal ocular movements precedent sometimes appearance of the convulsions. The epileptic fits are of all types: generalized, tonic, clonic, lacking tone. The frequency as of these crises varies according to the children reached. The Backwardness is very variable.

Diagnosis

The diagnosis is made by the association of a low rate of blood glucose with a low rate of glucose in the céphalo-rachidian Liquide.

Sources

Dong Wang, Juan Mr. Pascual, Darryl De Vivo, Glucose To transport Standard 1 Deficiency Syndrome In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005]

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