DEFICIENCIA DE GLUT1 PDF

GLUT1 deficiency, also known as De Vivo disease, is an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that. Disease definition. Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is. Type 1 glucose transporter (Glut1) deficiency: Manifestations of a hereditary Deficiencia del transportador de glucosa tipo 1 (Glut1): manifestaciones de un.

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Glut1 deficiency

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Only comments written in English can defociencia processed. Glucose transporter type 1 GLUT1 deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals.

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Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene.

Diagnosis is based on the clinical picture and biochemical analysis of the cerebrospinal fluid CSF. GLUT1 deficiency syndrome is transmitted as an autosomal dominant trait and in these cases the affected parent presents with a mild form of the disease.

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Transportadores de glicose

Disease definition Glucose transporter type 1 GLUT1 deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals.

InfancyNeonatal ICD Summary Epidemiology The prevalence is unknown. Etiology In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene.

Diagnostic methods Diagnosis is based on the clinical picture and biochemical analysis of the cerebrospinal fluid CSF. Genetic counseling GLUT1 deficiency syndrome is transmitted as an autosomal dominant trait and in these cases the affected parent presents with a mild form of the disease.

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Orphanet: Encefalopat a por deficiencia de GLUT1

Detailed information Article for general public Svenska Professionals Emergency guidelines Englishpdf Clinical genetics review English Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 3.

Health care resources for this disease Expert centres Diagnostic tests 77 Patient organisations 43 Orphan drug s 1. Specialised Social Services Glut11 directory.

The documents contained in this web ee are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.