L-Glyceric Aciduria (Primary Hyperoxaluria Type 2) in Siblings in Two Unrelated Families

Chalmers, R. A.; Tracey, B. M.; Mistry, J.; Griffiths, K.; Green, A.; Winterborn, M H

doi:10.1007/978-94-009-5612-4_41

Cited by 23 publications

(28 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The GA background concentrations in plasma determined in the present study are in agreement with those (6.6-32.9 lmol/l) published by Chalmers et al (1984).…”

Section: Glycolic Acidsupporting

confidence: 90%

Human inhalation exposure to ethylene glycol

Carstens

Csanády²,

Faller

et al. 2003

Archives of Toxicology

View full text Add to dashboard Cite

Two male volunteers (A and B) inhaled 1.43 and 1.34 mmol, respectively, of vaporous (13)C-labeled ethylene glycol ((13)C(2)-EG) over 4 h. In plasma, (13)C(2)-EG and its metabolite (13)C(2)-glycolic acid ((13)C(2)-GA) were determined together with the natural burden from background GA using a gas chromatograph equipped with a mass selective detector. Maximum plasma concentrations of (13)C(2)-EG were 11.0 and 15.8 micromol/l, and of (13)C(2)-GA were 0.9 and 1.8 micromol/l, for volunteers A and B, respectively. Corresponding plasma half-lives were 2.1 and 2.6 h for (13)C(2)-EG, and 2.9 and 2.6 h for (13)C(2)-GA. Background GA concentrations were 25.8 and 28.3 micro mol/l plasma. Unlabeled background EG, GA and oxalic acid (OA) were detected in urine in which the corresponding (13)C-labeled compounds were also quantified. Within 28 h after the start of the exposures, 6.4% and 9.3% (13)C(2)-EG, 0.70% and 0.92% (13)C(2)-GA, as well as 0.08% and 0.28% (13)C(2)-OA of the inhaled amounts of (13)C(2)-EG, were excreted in urine by volunteers A and B, respectively. The amounts of (13)C(2)-GA represented 3.7% and 14.2% of background urinary GA excreted over 24 h (274 and 88 micromol). The amounts of (13)C(2)-OA were 0.5% and 2.1% of background urinary OA excreted over 24 h (215 and 177 micromol). From the findings obtained in plasma and urine and from a toxicokinetic analysis of these data, it is highly unlikely that workplace EG exposure according to the German exposure limit (MAK-value 10 ppm EG, 8 h) could lead to adverse effects from the metabolically formed GA and OA.

show abstract

“…The GA background concentrations in plasma determined in the present study are in agreement with those (6.6-32.9 lmol/l) published by Chalmers et al (1984).…”

Section: Glycolic Acidsupporting

confidence: 90%

Human inhalation exposure to ethylene glycol

Carstens

Csanády²,

Faller

et al. 2003

Archives of Toxicology

View full text Add to dashboard Cite

show abstract

“…Although it has been believed for some time that these two reactions might be involved in the biosynthesis of serine [10], there is now ample evidence that they are part of one of the serine degradation pathways [5] and the fact that D-glycerate. dehydrogenase deficiency results in the accumulation of Lglycerate [11][12][13], which is produced from hydroxypyruvate by lactate dehydrogenase [9], is a strong argument in support of this thesis. Furthermore, liver D-glycerate dehydrogenase displays much more affinity for NADPH and NADP (Van Schaftingen, unpublished) than respectively for NADH and NAD, and, since it is located in the cytosol [ 14], can presumably only function as a reductase in vivo.…”

Section: D-glycerate Metabolism In the Livermentioning

confidence: 70%

D‐Glycerate kinase deficiency as a cause of D‐glyceric aciduria

Schaftingen

1989

FEBS Letters

View full text Add to dashboard Cite

D-Glycerate kinase was measured in human livers thanks to a new, sensitive radiochemical assay. The enzyme was extremely unstable in extracts prepared in water, but was partly stabilized in a homogenization mixture containing inorganic phosphate, D-glycerate and EGTA. When extracted in such a stabilizing mixture, glycerate kinase activity amounted to 0.86 + 0.21 U/g in control rivers and to 0.03 U/g in the liver of a patient with D-glyceric aciduria. In contrast, Dglycerate dehydrogenase (glyoxylate reductase) and triokinase activities were not deficient in the liver of the same patient.It is concluded that D-glycerate kinase deficiency is a cause of D-glyceric aciduria.

show abstract

“…Primary hyperoxaluria type II (McKusick 26000) is caused by a defective D-glycerate dehydrogenase [63]. Only eight cases have been published since the initial description [14].…”

Section: Introductionmentioning

confidence: 99%

Primary hyperoxaluria type I

1990

View full text Add to dashboard Cite

Primary hyperoxaluria type I is a metabolic disorder caused by the deficiency of the peroxisomal alanine:glyoxylate aminotransferase. The disease is inherited as an autosomal recessive trait. The clinical course is outlined based on data from 330 published cases. Diagnostic cornerstones are clinical parameters, urinary excretion of oxalate and glycolate, and the determination of enzyme activity in liver tissue. Principles of conservative treatment, e.g. volume load and pyridoxine substitution, are described as well as experience with different modes of dialysis and transplantation. Kidney transplantation is associated with a high rate of recurrence of the original disease despite excellent management resulting in many instances in early graft loss. Liver transplantation offers the possibility to correct the metabolic defect and to prevent the progression of crystal deposition in the body.

show abstract

L-Glyceric Aciduria (Primary Hyperoxaluria Type 2) in Siblings in Two Unrelated Families

Cited by 23 publications

References 5 publications

Human inhalation exposure to ethylene glycol

Human inhalation exposure to ethylene glycol

D‐Glycerate kinase deficiency as a cause of D‐glyceric aciduria

Primary hyperoxaluria type I

Contact Info

Product

Resources

About