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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Progress in understanding 2-hydroxyglutaric acidurias.
Martijn Kranendijk1, Eduard A Struys, Gajja S Salomons
1Metabolic Unit - Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.
Journal of Inherited Metabolic Disease
|March 7, 2012
Summary
Organic acidurias, including D-2-hydroxyglutaric aciduria (D-2-HGA) and L-2-hydroxyglutaric aciduria (L-2-HGA), lead to neurological issues in children. This review details the clinical, genetic, and metabolic aspects of these rare 2-hydroxyglutaric acidurias (2-HGA).
Area of Science:
- Biochemistry
- Genetics
- Neurology
- Metabolic Disorders
Background:
- Organic acidurias, specifically 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), are rare genetic disorders.
- These conditions are characterized by the accumulation of D-2-hydroxyglutarate (D-2-HG) and/or L-2-hydroxyglutarate (L-2-HG) in bodily fluids.
- Neurological impairment is a significant consequence of these disorders, particularly in young individuals.
Purpose of the Study:
- To provide a comprehensive review of the scientific knowledge on 2-hydroxyglutaric acidurias (2-HGA) since their initial identification in 1980.
- To detail the clinical, genetic, enzymatic, and metabolic characteristics of D-2-HGA type I, D-2-HGA type II, L-2-HGA, and D,L-2-HGA.
- To present novel clinical information for D-2-HGA type I and type II, gathered through patient questionnaires.
Main Methods:
- Literature review compiling existing data on 2-hydroxyglutaric acidurias (2-HGA).
- Analysis of clinical, genetic, enzymatic, and metabolic data from published studies and patient records.
- Utilized questionnaire-based data collection to gather new clinical information on specific subtypes (D-2-HGA type I and type II).
Main Results:
- Detailed characterization of four types of 2-hydroxyglutaric acidurias (2-HGA): D-2-HGA type I, D-2-HGA type II, L-2-HGA, and D,L-2-HGA.
- Accumulation of specific isomers of 2-hydroxyglutarate (2-HG) serves as a key diagnostic marker.
- New clinical insights were obtained for D-2-HGA type I and type II, enhancing understanding of their phenotypic spectrum.
Conclusions:
- The review consolidates current understanding of 2-hydroxyglutaric acidurias (2-HGA), highlighting their impact on neurological development.
- The distinct clinical, genetic, and metabolic profiles of the different 2-HGA subtypes are elucidated.
- Continued research and data collection are crucial for improving diagnosis and management of these rare organic acidurias.
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