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: | , |
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| Formato: | Artículo revista |
| Lenguaje: | Español |
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Facultad de Odontología
2019
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/RevFacOdonto/article/view/23858 |
| Aporte de: |
| Sumario: | 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 |
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