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 be 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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D appear between the age of 1 and 4 months, following a normal birth and gestation.

Glut1 deficiency – Wikipedia

In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. Diagnosis is based on the clinical gout1 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. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message.

Disease definition Glucose transporter type 1 GLUT1 deficiency syndrome is characterized by an encephalopathy marked by childhood deficienca 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 Defkciencia is based on the clinical picture and biochemical analysis of the cerebrospinal fluid CSF.

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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. Detailed information Article for general public Svenska Professionals Emergency guidelines Englishpdf Clinical genetics review English deficiencla 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 Eurordis directory. The documents contained in this web site 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.