Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico

The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight a...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Cornejo E,Verónica, Cabello A,Juan Francisco, Colombo C,Marta, Raimann B,Erna
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2007
Materias:	Brain diseases metabolic, inborn Glucose transporter type 1
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007000500011
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:scielo:S0034-98872007000500011
record_format	dspace
spelling	oai:scielo:S0034-988720070005000112007-07-09Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínicoCornejo E,VerónicaCabello A,Juan FranciscoColombo C,MartaRaimann B,Erna Brain diseases metabolic, inborn Glucose transporter type 1 The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight and height at birth. At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day. She was treated with valproate, phenobarbital and carbamazepine without response. Blood analysis including aminoacids and acylcarnitines were all normal. The brain MRI showed frontal atrophy with an increased subarachnoidal space and Electroencephalography was abnormal. Blood glucose was 84 mg/dl and spinal fluid glucose 26 mg/dl with a ratio of 0.31 (Normal Ratio >0.65+00.1). These results suggested the diagnosis of GLUT-1 SD, and was confirmed with erythrocyte glucose uptake of 44% (Normal range 80-100%). A molecular study found the mutation 969del, C971T in exon 6 of the gene Glut-1. Treatment with a ketogenic diet was started immediately and after 7 days with this diet seizures ceased. Anticonvulsants were progressively suspended. At present, the patient is 6 years old, she continues on a ketogenic diet and supplements with L-carnitine, lipoic acid, vitamins and minerals. Growth and development are normal with an intelligence quotient of 103. It is concluded that it is necessary to include GLUT-1 SD in the differential diagnosis of children with early seizures that are non responsive to pharmacological treatmentinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.135 n.5 20072007-05-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007000500011es10.4067/S0034-98872007000500011
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Brain diseases metabolic, inborn Glucose transporter type 1
spellingShingle	Brain diseases metabolic, inborn Glucose transporter type 1 Cornejo E,Verónica Cabello A,Juan Francisco Colombo C,Marta Raimann B,Erna Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico
description	The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight and height at birth. At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day. She was treated with valproate, phenobarbital and carbamazepine without response. Blood analysis including aminoacids and acylcarnitines were all normal. The brain MRI showed frontal atrophy with an increased subarachnoidal space and Electroencephalography was abnormal. Blood glucose was 84 mg/dl and spinal fluid glucose 26 mg/dl with a ratio of 0.31 (Normal Ratio >0.65+00.1). These results suggested the diagnosis of GLUT-1 SD, and was confirmed with erythrocyte glucose uptake of 44% (Normal range 80-100%). A molecular study found the mutation 969del, C971T in exon 6 of the gene Glut-1. Treatment with a ketogenic diet was started immediately and after 7 days with this diet seizures ceased. Anticonvulsants were progressively suspended. At present, the patient is 6 years old, she continues on a ketogenic diet and supplements with L-carnitine, lipoic acid, vitamins and minerals. Growth and development are normal with an intelligence quotient of 103. It is concluded that it is necessary to include GLUT-1 SD in the differential diagnosis of children with early seizures that are non responsive to pharmacological treatment
author	Cornejo E,Verónica Cabello A,Juan Francisco Colombo C,Marta Raimann B,Erna
author_facet	Cornejo E,Verónica Cabello A,Juan Francisco Colombo C,Marta Raimann B,Erna
author_sort	Cornejo E,Verónica
title	Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico
title_short	Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico
title_full	Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico
title_fullStr	Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico
title_full_unstemmed	Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico
title_sort	síndrome de deficiencia del transportador de glucosa tipo 1 (sdglut-1) tratado con dieta cetogénica: caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2007
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007000500011
work_keys_str_mv	AT cornejoeveronica sindromededeficienciadeltransportadordeglucosatipo1sdglut1tratadocondietacetogenicacasoclinico AT cabelloajuanfrancisco sindromededeficienciadeltransportadordeglucosatipo1sdglut1tratadocondietacetogenicacasoclinico AT colombocmarta sindromededeficienciadeltransportadordeglucosatipo1sdglut1tratadocondietacetogenicacasoclinico AT raimannberna sindromededeficienciadeltransportadordeglucosatipo1sdglut1tratadocondietacetogenicacasoclinico
_version_	1718436321123368960

Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico

Ejemplares similares