J Inherit Metab Dis. 2002 May;25(2):83-8.

3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.

Pitt J, Carpenter K, Wilcken B, Boneh A.

Source

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia. jpitt@cryptic.rch.unimelb.edu.au

Abstract

Three patients with ketosis had increased excretion of 3-hydroxyglutarate (21.8-37.9 micromol/mmol creatinine; controls 2.3 +/- 1.6), an indicator of glutaryl-CoA dehydrogenase deficiency (GDHD), which normalized when the patients were nonketotic. Clinical assessment of all three patients and enzyme studies in one patient were not consistent with GDHD. These findings were compared with those of other ketotic patients, who showed statistically significant increases in 3-hydroxyglutarate excretion (9.4 +/- 5.0 micromol/mmol creatinine; p < 0.01), and with those of a child with confirmed GDHD when she was both ketotic and nonketotic. Secondary increase in 3-hydroxyglutarate excretion during ketosis is a potential confounder in the diagnosis of GDHD.

PMID:: 12118531; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Case Reports

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

glutaric acidemia type I - Genetics Home Reference

Supplemental Content

Related citations

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. [Mol Genet Metab. 1999]
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
Nyhan WL, Zschocke J, Hoffmann G, Stein DE, Bao L, Goodman S. Mol Genet Metab. 1999 Mar; 66(3):199-204.
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. [Pediatr Res. 2000]
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, et al. Pediatr Res. 2000 Sep; 48(3):315-22.
Significance of bound glutarate in the diagnosis of glutaric aciduria type I. [J Inherit Metab Dis. 1992]
Significance of bound glutarate in the diagnosis of glutaric aciduria type I.
Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS. J Inherit Metab Dis. 1992; 15(3):367-70.
Review Acute profound dystonia in infants with glutaric acidemia. [Pediatrics. 1989]
Review Acute profound dystonia in infants with glutaric acidemia.
Bergman I, Finegold D, Gartner JC Jr, Zitelli BJ, Claassen D, Scarano J, Roe CR, Stanley C, Goodman SI. Pediatrics. 1989 Feb; 83(2):228-34.
Review [Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)]. [Ryoikibetsu Shokogun Shirizu. 1998]
Review [Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)].
Hayasaka K, Ikeda H. Ryoikibetsu Shokogun Shirizu. 1998; (18 Pt 1):332-5.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.

Recent activity

Clear Turn Off Turn On

3-Hydroxyglutarate excretion is increased in ketotic patients: implications for ...
3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.
J Inherit Metab Dis. 2002 May ;25(2):83-8.

PubMed
The effect of steroids on the in vitro migration of washed human spermatozoa in ...
The effect of steroids on the in vitro migration of washed human spermatozoa in modified Tyrode's solution or in fasting human blood serum.
Fertil Steril. 1979 Nov ;32(5):566-70.

PubMed
Electronic versus dictated hospital discharge summaries: a randomized controlled...
Electronic versus dictated hospital discharge summaries: a randomized controlled trial.
J Gen Intern Med. 2009 Sep ;24(9):995-1001. Epub 2009 Jul 16 .

PubMed
The arthropathy of systemic sclerosis: a 12 month prospective clinical and imagi...
The arthropathy of systemic sclerosis: a 12 month prospective clinical and imaging study.
Skeletal Radiol. 2005 Jan ;34(1):35-41. Epub 2004 Sep 17 .

PubMed
Bioprotective properties of seaweeds: in vitro evaluation of antioxidant activit...
Bioprotective properties of seaweeds: in vitro evaluation of antioxidant activity and antimicrobial activity against food borne bacteria in relation to polyphenolic content.
BMC Complement Altern Med. 2008 Jul 10 ;8:38.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to: