1) La descarga del recurso depende de la página de origen
2) Para poder descargar el recurso, es necesario ser usuario registrado en Universia

Detalles del recurso


Inherited disorders of gamma-aminobutyric acid (GABA) metabolism include succinic semialdehyde dehydrogenase (SSADH) and gamma-aminobutyric acid transaminase (GABA-T) deficiencies. The clinical features, pathophysiology, diagnosis, and management of both, and an updated list of mutations in the ALDH5A1 gene, which cause SSADH deficiency, are discussed. A database of 112 individuals (71 children and adolescents, and 41 adults) indicates that developmental delay and hypotonia are the most common symptoms arising from SSADH deficiency. Furthermore, epilepsy is present in two-thirds of SSADH-deficient individuals by adulthood. Research with murine genetic models and human participants, using [11C] flumazenil positron emission tomography (FMZ-PET) and transcranial magnetic stimulation, have led to therapeutic trials, and the identification of additional disruptions to GABA metabolism. Suggestions for new therapies have arisen from findings of GABAergic effects on autophagy, with enhanced activation of the mammalian target of rapamycin (mTOR) pathway. Details of known pathogenic mutations in the ALDH5A1 gene, three of which have not previously been reported, are summarized here. Investigations into disorders of GABA metabolism provide fundamental insights into the mechanisms underlying epilepsy, and support the importance of developing biomarkers and clinical trials. Comprehensive definition of phenotypes arising as a result of deficiencies in both SSADH and GABA-T may increase our understanding of the neurophysiological consequences of a hyper-GABAergic state.

Pertenece a

Digital Access to Scholarship at Harvard  


Pearl, Phillip L -  Parviz, Mahsa -  Vogel, Kara -  Schreiber, John -  Theodore, William H -  Gibson, K Michael - 

Id.: 64935276

Idioma: inglés (Estados Unidos)  - 

Versión: 1.0

Estado: Final

Palabras claveInborn Errors of Metabolism (IEM) - 

Tipo de recurso: Journal Article  - 

Tipo de Interactividad: Expositivo

Nivel de Interactividad: muy bajo

Audiencia: Estudiante  -  Profesor  -  Autor  - 

Estructura: Atomic

Coste: no

Copyright: sí

: open

Requerimientos técnicos:  Browser: Any - 

Relación: [References] doi:10.1111/dmcn.12668
[References] Dev Med Child Neurol

Fecha de contribución: 02-sep-2016


* Quick submit: 2016-01-16T15:33:56-05:00
* Pearl, Phillip L, Mahsa Parviz, Kara Vogel, John Schreiber, William H Theodore, and K Michael Gibson. 2014. Inherited Disorders of Gamma-Aminobutyric Acid Metabolism and Advances in ALDH5A1 Mutation Identification. Developmental Medicine & Child Neurology 57, no. 7: 611–617. doi:10.1111/dmcn.12668. http://dx.doi.org/10.1111/dmcn.12668.
* 0012-1622

Otros recursos del mismo autor(es)

  1. Neurocysticercosis: A natural human model of epileptogenesis. International audience
  2. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia Music production and perception invoke a complex set of cognitive functions that rely on the integra...
  3. Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy Up to one-third of patients with epilepsy are medically intractable and need resective surgery. To b...
  4. Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy Crucial to the success of epilepsy surgery is the availability of a robust biomarker that identifies...
  5. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic...

Aviso de cookies: Usamos cookies propias y de terceros para mejorar nuestros servicios, para análisis estadístico y para mostrarle publicidad. Si continua navegando consideramos que acepta su uso en los términos establecidos en la Política de cookies.