L-2-Hydroxyglutaric acid

From NuGOwiki

(Redirected from HMDB00694)

The NuGOwiki Metabolite Database is a joint initiative of NuGO and HMDB

Taxonomy Navigation Box; search by

L-2-Hydroxyglutaric acid
2D structure for L-2-Hydroxyglutaric acid
Chemical Name	(2S)-2-hydroxypentanedioic acid
Chemical Formula	C₅H₈O₅
CAS Number	13095-48-2
Chemical Information	HMDB00694
Biochemical Taxonomy	Dicarboxylic Acids
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Not Available
Biofluid Location	Blood Cerebrospinal Fluid (CSF) Urine
Tissue Location	Not Available
Normal Biofluid Concentrations	Blood: 1.5 (0.0-1.5) uM Cerebrospinal Fluid (CSF): 1.0 +/- 1.0 uM Urine: 11.2 umol/mmol creatinine Urine: 12.4 umol/mmol creatinine Urine: 13.7 umol/mmol creatinine Urine: 41.5 umol/mmol creatinine Urine: 51.9 umol/mmol creatinine
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Patients with L-2-hydroxyglutaric aciduria
Other (Monogenic Disorders)	L-2-hydroxyglutaric aciduria OMIM: 236792
Abnormal Biofluid Concentrations	Blood (Patients with L-2-hydroxyglutaric aciduria): 47.0 +/- 13.0 umol/L
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

Authors:
Affiliations:

Introduction

guidelines
L-2-Hydroxyglutaric acid is a metabolite that accumulates in D-2-hydroxyglutaric aciduria (a neurometabolic disorder, OMIM 236792), and 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 (OMIM 600721) and Spondyloenchondrodysplasia (OMIM 271550).