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.

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

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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 33 free, full-text research articles on human participants. First 3 results:

Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1.
 

Author(s): Ruth Lagies, Bodo B Beck, Bernd Hoppe, Narayanswami Sreeram, Floris E A Udink Ten Cate

Journal: Circ Heart Fail. 2013 Jul;6(4):e45-7.

 

Last Updated: 17 Jul 2013

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Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
 

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

Journal: Biochim. Biophys. Acta. 2013 Oct;1832(10):1776-83.

 

Primary hyperoxaluria type 1 (PH1) is a rare hereditary calcium oxalate kidney stone disease caused by a deficiency of the liver-specific pyridoxal-phosphate-dependent peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). About one third of patients are responsive to pharmacological ...

Last Updated: 23 Jul 2013

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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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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 4 free, full-text review articles on human participants. First 3 results:

Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
 

Author(s): Christopher J Danpure

Journal: Biochim. Biophys. Acta. 2006 Dec;1763(12):1776-84.

 

Primary hyperoxaluria type 1 (PH1) is an atypical peroxisomal disorder, as befits a deficiency of alanine:glyoxylate aminotransferase (AGT), which is itself an atypical peroxisomal enzyme. PH1 is characterized by excessive synthesis and excretion of the metabolic end-product oxalate ...

Last Updated: 15 Dec 2006

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 4 Sep 2014

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Last Updated: 4 Sep 2014

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Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 16 Sep 2014

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