Genetic Defects in the biosynthesis and transport of Creatine

Creatine Deficiency Genetic Defect (CDGD) constitute a new chapter in Medical Genetics; this refers to a group of genetic pathologies in the metabolism of creatine synthesis: deficiency in the arginine:glycine amidinotransferase (dAGAT), deficiency in guanidinoacetate methyltrasnferase (dGAMT) and c...

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Autores principales: Martínez, Lidia Dora, Dodelson de Kremer, R.
Formato: Artículo revista
Lenguaje:Español
Publicado: Facultad de Odontología 2019
Materias:
Guanidinoacetate methyltransferase
Glycine
arginine amidinotransferase
Creatine transporter
Saliva
Neurometabolic disease
Guanidinoaceto Metiltransferasa
Arginina
glicina amidinotransferasa
Transportador de Creatina
enfermedad neurometabólica.
Acceso en línea:https://revistas.unc.edu.ar/index.php/RevFacOdonto/article/view/23858
Aporte de:
Revista de la Facultad de Odontología de Universidad Nacional de Córdoba
id I10-R335-article-23858
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institution Universidad Nacional de Córdoba
institution_str I-10
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container_title_str Revista de la Facultad de Odontología
language Español
format Artículo revista
topic Guanidinoacetate methyltransferase
Glycine
arginine amidinotransferase
Creatine transporter
Saliva
Neurometabolic disease
Guanidinoaceto Metiltransferasa
Arginina
glicina amidinotransferasa
Transportador de Creatina
Saliva
enfermedad neurometabólica.
spellingShingle Guanidinoacetate methyltransferase
Glycine
arginine amidinotransferase
Creatine transporter
Saliva
Neurometabolic disease
Guanidinoaceto Metiltransferasa
Arginina
glicina amidinotransferasa
Transportador de Creatina
Saliva
enfermedad neurometabólica.
Martínez, Lidia Dora
Dodelson de Kremer, R.
Genetic Defects in the biosynthesis and transport of Creatine
topic_facet Guanidinoacetate methyltransferase
Glycine
arginine amidinotransferase
Creatine transporter
Saliva
Neurometabolic disease
Guanidinoaceto Metiltransferasa
Arginina
glicina amidinotransferasa
Transportador de Creatina
Saliva
enfermedad neurometabólica.
author Martínez, Lidia Dora
Dodelson de Kremer, R.
author_facet Martínez, Lidia Dora
Dodelson de Kremer, R.
author_sort Martínez, Lidia Dora
title Genetic Defects in the biosynthesis and transport of Creatine
title_short Genetic Defects in the biosynthesis and transport of Creatine
title_full Genetic Defects in the biosynthesis and transport of Creatine
title_fullStr Genetic Defects in the biosynthesis and transport of Creatine
title_full_unstemmed Genetic Defects in the biosynthesis and transport of Creatine
title_sort genetic defects in the biosynthesis and transport of creatine
description Creatine Deficiency Genetic Defect (CDGD) constitute a new chapter in Medical Genetics; this refers to a group of genetic pathologies in the metabolism of creatine synthesis: deficiency in the arginine:glycine amidinotransferase (dAGAT), deficiency in guanidinoacetate methyltrasnferase (dGAMT) and creatine transport deficiency (dCRTR). Both dAGAT and dGAMT are inherited in autosomal recessive form, while transmission of dCRTR is bound to the X chromosome. The most frequent clinical manifestations include mental retardation, epilepsy, language alteration, autism and hypotony. The integrated research protocol consists of: I- selection of compatible patients, II- biochemical analyses, III- proton magnetic resonance spectroscopy, IV- enzymatic activity dosage in dAGAT, dGAMT and the functionality of the transporter in dCRTR, V- molecular analysis. The purpose of this review is to update the biochemical, enzymatic and molecular studies to enable the identification and characterization of these severe neurological diseases, irreversibly evolutionary if undiagnosed, and not as yet described in our environment. The methodology used for the detection of DGDCs consists of clinical procedures of selection; mensuration of guanidinoacetate, creatine by gas chromathography and creatinine; enzymatic activity dosage in dAGAT, dGAMT and the functionality of the transporter in dCRTR. Experience indicates that the extraordinary clinical heterogeneity and biochemical complexity requires research programmed within a specific protocol, justified by the serious neurological compromise involved and the therapeutic management possible in dAGAT and dGAMT
publisher Facultad de Odontología
publishDate 2019
url https://revistas.unc.edu.ar/index.php/RevFacOdonto/article/view/23858
work_keys_str_mv AT martinezlidiadora geneticdefectsinthebiosynthesisandtransportofcreatine
AT dodelsondekremerr geneticdefectsinthebiosynthesisandtransportofcreatine
AT martinezlidiadora defectosgeneticosenlabiosintesisytransportedelacreatina
AT dodelsondekremerr defectosgeneticosenlabiosintesisytransportedelacreatina
first_indexed 2024-09-03T21:15:23Z
last_indexed 2024-09-03T21:15:23Z
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spelling I10-R335-article-238582019-04-01T10:52:21Z Genetic Defects in the biosynthesis and transport of Creatine Defectos Genéticos en la biosíntesis y transporte de la Creatina Martínez, Lidia Dora Dodelson de Kremer, R. Guanidinoacetate methyltransferase Glycine arginine amidinotransferase Creatine transporter Saliva Neurometabolic disease Guanidinoaceto Metiltransferasa Arginina glicina amidinotransferasa Transportador de Creatina Saliva enfermedad neurometabólica. Creatine Deficiency Genetic Defect (CDGD) constitute a new chapter in Medical Genetics; this refers to a group of genetic pathologies in the metabolism of creatine synthesis: deficiency in the arginine:glycine amidinotransferase (dAGAT), deficiency in guanidinoacetate methyltrasnferase (dGAMT) and creatine transport deficiency (dCRTR). Both dAGAT and dGAMT are inherited in autosomal recessive form, while transmission of dCRTR is bound to the X chromosome. The most frequent clinical manifestations include mental retardation, epilepsy, language alteration, autism and hypotony. The integrated research protocol consists of: I- selection of compatible patients, II- biochemical analyses, III- proton magnetic resonance spectroscopy, IV- enzymatic activity dosage in dAGAT, dGAMT and the functionality of the transporter in dCRTR, V- molecular analysis. The purpose of this review is to update the biochemical, enzymatic and molecular studies to enable the identification and characterization of these severe neurological diseases, irreversibly evolutionary if undiagnosed, and not as yet described in our environment. The methodology used for the detection of DGDCs consists of clinical procedures of selection; mensuration of guanidinoacetate, creatine by gas chromathography and creatinine; enzymatic activity dosage in dAGAT, dGAMT and the functionality of the transporter in dCRTR. Experience indicates that the extraordinary clinical heterogeneity and biochemical complexity requires research programmed within a specific protocol, justified by the serious neurological compromise involved and the therapeutic management possible in dAGAT and dGAMT Los defectos genéticos de deficiencia de creatina (DGDC), constituyen un capítulo de la Genética Médica que refiere a un grupo de patologías genéticas del metabolismo en la biosíntesis y transporte de la creatina; comprende deficiencias en dos enzimas: arginino:glicino amidinotransferasa (d-AGAT), y guanidinoacetato metiltransferasa (d-GAMT) y la deficiencia en el transportador de la creatina (d-CRTR). Las d-AGAT y d-GAMT se heredan ambas en forma autosómica recesiva, mientras que la d-CRTR es de transmisión ligada al cromosoma X. Las manifestaciones clínicas más frecuentes incluyen, retardo mental, epilepsias, sugiriendo mayor compromiso de la sustancia gris cerebral, alteración del lenguaje, autismo e hipotonía. Un parámetro químico común de los DGDC es la deficiencia de creatina cerebral que se demuestra por espectroscopía de resonancia magnética protónica "in vivo" (ERM H1). El propósito de este trabajo es realizar una actualización de los estudios bioquímicos, enzimáticos y moleculares, que permitan la identificación y caracterización de estas severas enfermedades neurológicas, irreversiblemente evolutivas si no son diagnosticadas, además se pretende realizar un análisis de la saliva en el estudio de los DGDC en forma complementaria con el plasma y la orina. La metodología utilizada para la detección de los DGDC consta en esenciaI.seleccionar pacientes con compatibilidad fenotípica, II- analizar el perfil bioquímico, a través de la medición del guanidinoacetato, que permite diferenciar entre d-GAMT (alta concentración), la d-AGAT (baja concentración) y la d-CRTR (concentración normal), creatina y creatinina en plasma, orina y saliva, III- efectuar la ERM H1, IV- definición del probable defecto genético mediante el ensayo de la especifica actividad enzimática en saliva, V- realizar el análisis molecular del gen correspondiente. La importancia estimada de cumplimentar el algoritmo diagnóstico estriba en la disponibilidad de una terapia eficaz para las d-GAMT y d-AGAT, el circunscribir las familias involucradas y brindar el correcto asesoramiento genético. Resulta importante además, el desarrollo de un área genética no explorada con anterioridad en nuestro medio y de gran impacto asistencial y académico. Facultad de Odontología 2019-03-30 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf https://revistas.unc.edu.ar/index.php/RevFacOdonto/article/view/23858 Revista de la Facultad de Odontología; Vol. 29 Núm. 1 (2019); 15-21 2545-7594 0325-1071 spa https://revistas.unc.edu.ar/index.php/RevFacOdonto/article/view/23858/23409

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