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

Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1.
 

Author(s): Guo-Yong Chen, Si-Dong Wei, Zhong-Wu Zou, Gao-Feng Tang, Jian-Jun Sun, Shao-Tang Zhou

Journal: Medicine (Baltimore). 2015 Aug;94(31):e1267.

 

Primary hyperoxaluria type I (PH1), the most severe form of primary hyperoxalurias, is a liver disease of the metabolic defect in glyoxylate detoxification that can be corrected by liver transplantation. A 21-year-old man presented to our center after 4 months of regular hemodialysis ...

Last Updated: 8 Aug 2015

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Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria.
 

Author(s): Sarah E Berini, Jennifer A Tracy, Janean K Engelstad, Elizabeth C Lorenz, Dawn S Milliner, Peter J Dyck

Journal: Muscle Nerve. 2015 Mar;51(3):449-54.

 

A 24-year-old man with primary hyperoxaluria type 1 (PH1) presented with a rapidly progressive axonal and demyelinating sensorimotor polyradiculoneuropathy shortly after the onset of end-stage renal disease. His plasma oxalate level was markedly elevated at 107 ┬Ámol/L (normal<1.8 ┬Ámol/L).

Last Updated: 14 Feb 2015

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Long-term results of combined liver-kidney transplantation for primary hyperoxaluria type 1: the French experience.
 

Author(s): Philippe Compagnon, Philippe Metzler, Didier Samuel, Christophe Camus, Patrick Niaudet, Antoine Durrbach, Philippe Lang, Daniel Azoulay, Christophe Duvoux, Francois Bayle, Joseph Rivalan, Pierre Merville, Gerard Pascal, Eric Thervet, Albert Bensman, Lionel Rostaing, Georges Deschenes, Jeff Morcet, Cyrille Feray, Karim Boudjema

Journal: Liver Transpl.. 2014 Dec;20(12):1475-85.

 

Primary hyperoxaluria type 1 (PH1) is a hepatic metabolic defect leading to end-stage renal failure. The posttransplant recurrence of kidney disease can suggest a need for combined liver-kidney transplantation (LKT). However, the risk of LKT is theoretically far higher than the risk ...

Last Updated: 25 Nov 2014

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

Heart failure with mitral valve regurgitation due to primary hyperoxaluria type 1: case report with review of the literature.
 

Author(s): Luc Van Driessche, Annemieke Dhondt, Johan De Sutter

Journal: Acta Cardiol. 2007 Apr;62(2):202-6.

 

Primary hyperoxaluria type I (PH I) is a rare recessive autosomal disorder characterized by systemic calcium oxalate depositions, that results in renal failure and systemic oxalosis. We report a 38-year-old male with cardiac oxalosis, a severe complication of PHI, presenting with ...

Last Updated: 31 May 2007

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria Type 1 (PH1)

 

Last Updated: 8 Mar 2016

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Primary Hyperoxaluria Mutation Genotyping/Phenotyping
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 17 Dec 2015

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Last Updated: 29 Mar 2016

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