D-2-Hydroxyglutaric acid

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D-2-Hydroxyglutaric acid
2D structure for D-2-Hydroxyglutaric acid
Chemical Name 2-hydroxypentanedioic acid
Chemical Formula C5H8O5
CAS Number 13095-47-1
Chemical Information HMDB00606
Biochemical Taxonomy

  • Dicarboxylic Acids

Functional Taxonomy Not Available
Nutritional Taxonomy Not Available
Metabolic Pathways Not Available
Biofluid Location

  • Blood

Tissue Location Not Available
Normal Biofluid Concentrations

  • Blood: 0.7 +/- 0.2 umol/L

Normal Tissue Concentrations Not Available
Diseases / Conditions Related to Nutrition

  • Patients with D-2-hydroxyglutaric aciduria

Other (Monogenic Disorders)

Abnormal Biofluid Concentrations

  • Blood (Patients with D-2-hydroxyglutaric aciduria): 61.0 +/- 14.0 umol/L

Abnormal Tissue Concentrations Not Available
Physiological Processes Not Available
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Contents

Introduction

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Tissue accumulation of high amounts of D 2 hydroxyglutaric acid is the biochemical hallmark of the inherited neurometabolic disorder D 2 hydroxyglutaric aciduria. Both the D and the L stereoisomers of hydroxyglutaric acid (EC 1.1.99.2) are found in body fluids. Accumulation of L-2-hydroxyglutaric acid has been reported in multiple patients who have a clinical phenotype of progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and spongiform changes in the white matter (see 236792). Nyhan et al. (1995) described 3 female patients, 2 of them sibs, who were found to have excess accumulation of D-2-hydroxyglutaric acid in the urine. The phenotype was quite variable, even among the sibs, but included mental retardation, macrocephaly with cerebral atrophy, hypotonia, seizures, and involuntary movements. One of the patients developed severe intermittent vomiting and was given a pyloromyotomy. The electroencephalogram demonstrated hypsarrhythmia. There was an increased concentration of protein in cerebrospinal fluid, an unusual finding in inborn errors of metabolism. Increased CSF protein has also been observed in mitochondrial disorders, peroxisomal disorders, and Krabbe disease.(OMIM #600721)

Biological Function

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Catabolism

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Diseases / Conditions Related to Nutrition

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  • Patients with D-2-hydroxyglutaric aciduria

Other (Monogenic) Disorders

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Nutritional Information

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Drivers for biological variation

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Vulnerable groups

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