Primary hyperoxaluria type 1

Common Name(s)

Primary hyperoxaluria type 1

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary hyperoxaluria type 1" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

http://www.ohf.org/

Last Updated: 19 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary hyperoxaluria type 1" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

http://www.ohf.org/

Last Updated: 19 Mar 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Primary hyperoxaluria type 1" returned 28 free, full-text research articles on human participants. First 3 results:

Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
 

Author(s): Sonia Fargue, Jackie Lewin, Gill Rumsby, Christopher J Danpure

Journal: J. Biol. Chem.. 2013 Jan;288(4):2475-84.

 

The gene encoding the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT, EC. 2.6.1.44) exists as two common polymorphic variants termed the "major" and "minor" alleles. The P11L amino acid replacement encoded by the minor allele creates a hidden N-terminal ...

Last Updated: 28 Jan 2013

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Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.
 

Author(s): KrisztiƔn Fodor, Janina Wolf, Ralf Erdmann, Wolfgang Schliebs, Matthias Wilmanns

Journal: PLoS Biol.. 2012 ;10(4):e1001309.

 

Alanine-glyoxylate aminotransferase is a peroxisomal enzyme, of which various missense mutations lead to irreversible kidney damage via primary hyperoxaluria type 1, in part caused by improper peroxisomal targeting. To unravel the molecular mechanism of its recognition by the peroxisomal ...

Last Updated: 24 Apr 2012

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Primary hyperoxaluria type 1 in Tunisian children.
 

Author(s): Tahar Gargah, Nourchene Khelil, Gharbi Youssef, Wiem Karoui, Mohamed Rachid Lakhoua, Jaouida Abdelmoula

Journal: Saudi J Kidney Dis Transpl. 2012 Mar;23(2):385-90.

 

To determine the clinical, biological, and radiological futures of primary hyper-oxaluria type 1 in Tunisian children, we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009. The diagnosis was established by quantitative ...

Last Updated: 2 Mar 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Primary hyperoxaluria type 1" returned 3 free, full-text review articles on human participants. First 3 results:

Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
 

Author(s): Christopher J Danpure

Journal: Am. J. Nephrol.. ;25(3):303-10.

 

Primary hyperoxaluria type 1 (PH1) is a rare autosomal-recessive disorder caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in increased synthesis and excretion of the metabolic end-product oxalate and deposition ...

Last Updated: 12 Jul 2005

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Primary hyperoxaluria type 1.
 

Author(s): P Cochat

Journal: Kidney Int.. 1999 Jun;55(6):2533-47.

 

Last Updated: 6 Jul 1999

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Transplantation strategies in type 1 primary hyperoxaluria: the issue of pyridoxine responsiveness.
 

Author(s): M Marangella

Journal: Nephrol. Dial. Transplant.. 1999 Feb;14(2):301-3.

 

Last Updated: 29 Apr 1999

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Primary Hyperoxaluria Mutation Genotyping
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 20 Dec 2013

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Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 11 Dec 2013

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Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis
 

Status: Not yet recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 26 Nov 2013

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