Progress in understanding 2-hydroxyglutaric acidurias

The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of d-2-hydroxyglutarate (D-2-HG) and/or l-2-hydroxyglutarate (L-2-HG) in body fluids...

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Detalles Bibliográficos
Autores principales: Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2012
Materias:
Metabolic Dissertation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388262/
https://www.ncbi.nlm.nih.gov/pubmed/22391998
http://dx.doi.org/10.1007/s10545-012-9462-5
Descripción
Sumario:The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of d-2-hydroxyglutarate (D-2-HG) and/or l-2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D-2-HGA type I, D-2-HGA type II, L-2-HGA and D,L-2-HGA, whereas for D-2-HGA type I and type II novel clinical information is presented which was derived from questionnaires.

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