D-2-Hydroxyglutaric acid
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| D-2-Hydroxyglutaric acid | |
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| Chemical Name | 2-hydroxypentanedioic acid |
| Chemical Formula | C5H8O5 |
| CAS Number | 13095-47-1 |
| Chemical Information | HMDB00606 |
| Biochemical Taxonomy |
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| Functional Taxonomy | Not Available |
| Nutritional Taxonomy | Not Available |
| Metabolic Pathways | Not Available |
| Biofluid Location |
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| Tissue Location | Not Available |
| Normal Biofluid Concentrations |
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| Normal Tissue Concentrations | Not Available |
| Diseases / Conditions Related to Nutrition |
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| Other (Monogenic Disorders) |
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| Abnormal Biofluid Concentrations |
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| Abnormal Tissue Concentrations | Not Available |
| Physiological Processes | Not Available |
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Contents |
Introduction
guidelines
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
Catabolism
Diseases / Conditions Related to Nutrition
- Patients with D-2-hydroxyglutaric aciduria
Other (Monogenic) Disorders
- D-2-@hydroxyglutaric aciduria OMIM: 600721
