J Pediatr. 1977 Aug;91(2):237-41.

5-oxoprolinuria: biochemical observations and case report.

Spielberg SP, Kramer LI, Goodman SI, Butler J, Tietze F, Quinn P, Schulman JD.

Abstract

We have studied a patient with 5-oxoprolinuria who presented with hemolysis and metabolic acidosis as a neonate; he has had normal growth and development to one year of age. Compensated hemolytic anemia persists, and he requires alkalinizing agents for correction of acidosis. Biochemical studies have confirmed that a deficiency of glutathione synthetase is responsible for the 5-oxoprolinuria. Genetic heterogeneity was apparent on comparative study of glutathione synthetase kinetics in cells from two patients with this disorder. The consequences of the deficiency of glutathione synthetase, decreased intracellular glutathione, and overproduction of 5-oxoproline are discussed with reference to the possible cellular roles of these compounds.

PMID:: 874680; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

EBSCO

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Research Materials

Coriell Cell Repositories

Supplemental Content

Save items

Related citations in PubMed

Biochemical heterogeneity in glutathione synthetase deficiency. [J Clin Invest. 1978]
Biochemical heterogeneity in glutathione synthetase deficiency.
Spielberg SP, Garrick MD, Corash LM, Butler JD, Tietze F, Rogers L, Schulman JD. J Clin Invest. 1978 Jun; 61(6):1417-20.
Neonatal 5-oxoprolinuria: difficult-to-diagnose? [J Inherit Metab Dis. 1983]
Neonatal 5-oxoprolinuria: difficult-to-diagnose?
Mendelson IS, Christie E, Zaleski WA, MacKenzie SL, Wellner VP, Meister A. J Inherit Metab Dis. 1983; 6(1):44-8.
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. [Blood. 1983]
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Prchal JT, Crist WM, Roper M, Wellner VP. Blood. 1983 Oct; 62(4):754-7.
Review Patients with genetic defects in the gamma-glutamyl cycle. [Chem Biol Interact. 1998]
Review Patients with genetic defects in the gamma-glutamyl cycle.
Ristoff E, Larsson A. Chem Biol Interact. 1998 Apr 24; 111-112:113-21.
Review Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. [Br J Haematol. 2001]
Review Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E. Br J Haematol. 2001 Feb; 112(2):475-82.

See reviews... See all...

Cited by 5 PubMed Central articles

Nitrofurantoin cytotoxicity. In vitro assessment of risk based on glutathione metabolism. [J Clin Invest. 1981]
Nitrofurantoin cytotoxicity. In vitro assessment of risk based on glutathione metabolism.
Spielberg SP, Gordon GB. J Clin Invest. 1981 Jan; 67(1):37-41.
Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. [J Clin Invest. 1985]
Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.
Bernardini I, Rizzo WB, Dalakas M, Bernar J, Gahl WA. J Clin Invest. 1985 Apr; 75(4):1124-30.
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. [J Clin Invest. 1986]
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.
Beutler E, Gelbart T, Pegelow C. J Clin Invest. 1986 Jan; 77(1):38-41.

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.
BioSample
BioSample links
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

5-oxoprolinuria: biochemical observations and case report.
5-oxoprolinuria: biochemical observations and case report.
J Pediatr. 1977 Aug ;91(2):237-41.

PubMed
Determination of the pKa values of titratable groups of an antigen-antibody comp...
Determination of the pKa values of titratable groups of an antigen-antibody complex, HyHEL-5-hen egg lysozyme.
Protein Eng. 1995 Sep ;8(9):915-24.

PubMed
Promotion of V(D)J recombinational accessibility by the intronic E kappa element...
Promotion of V(D)J recombinational accessibility by the intronic E kappa element: role of the kappa B motif.
Int Immunol. 1995 Dec ;7(12):1995-2003.

PubMed
Long-term results of superficial defects in articular cartilage: a scanning elec...
Long-term results of superficial defects in articular cartilage: a scanning electron-microscope study.
J Pathol. 1977 Apr ;121(4):213-7.

PubMed
The shod foot and its implications for American women.
The shod foot and its implications for American women.
J South Orthop Assoc. 1994 Winter ;3(4):268-72.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

5-oxoprolinuria: biochemical observations and case report.

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Research Materials

Supplemental Content

Save items

Related citations in PubMed

Cited by 5 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information