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Elevated urine 3-hydroxyglutaric level

MedGen UID:
1841727
•Concept ID:
C5826565
•
Finding
Synonym: 3-hydroxyglutaric acid high in urine
 
HPO: HP:0034656

Definition

The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urine 3-hydroxyglutaric level

Professional guidelines

PubMed

Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Shaik M, T P KV, Kamate M, A B V
Indian J Pediatr 2019 Nov;86(11):995-1001. Epub 2019 Jul 13 doi: 10.1007/s12098-019-03017-z. PMID: 31302874
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054

Recent clinical studies

Etiology

2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M
Mol Genet Metab 2023 Apr;138(4):107549. Epub 2023 Feb 23 doi: 10.1016/j.ymgme.2023.107549. PMID: 36913764
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054

Diagnosis

2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M
Mol Genet Metab 2023 Apr;138(4):107549. Epub 2023 Feb 23 doi: 10.1016/j.ymgme.2023.107549. PMID: 36913764
A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC-MS for clinical urine organic acids analysis.
Dubland JA, Sinclair G, Vallance H, Rakić B
Clin Biochem 2022 Jul-Aug;105-106:81-86. Epub 2022 Apr 30 doi: 10.1016/j.clinbiochem.2022.04.016. PMID: 35500672
Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Shaik M, T P KV, Kamate M, A B V
Indian J Pediatr 2019 Nov;86(11):995-1001. Epub 2019 Jul 13 doi: 10.1007/s12098-019-03017-z. PMID: 31302874
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054
Organic acid and acylcarnitine profiles of glutaric aciduria type I.
Matsumoto M, Matsumoto I, Shinka T, Kuhara T, Imamura H, Shimao S, Okada T
Acta Paediatr Jpn 1990 Feb;32(1):76-82. doi: 10.1111/j.1442-200x.1990.tb00787.x. PMID: 2109491

Prognosis

2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M
Mol Genet Metab 2023 Apr;138(4):107549. Epub 2023 Feb 23 doi: 10.1016/j.ymgme.2023.107549. PMID: 36913764
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O
Diabetes 2004 Jan;53(1):221-7. doi: 10.2337/diabetes.53.1.221. PMID: 14693719

Clinical prediction guides

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O
Diabetes 2004 Jan;53(1):221-7. doi: 10.2337/diabetes.53.1.221. PMID: 14693719

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