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

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.
 

Author(s): Ibtihel Benhaj Mbarek, Saoussen Mdimeg, Amira Moussa, Dorsaf Zellama, Hayat Kaarout, Jaouida Abdelmoula, Abdellatif Achour, Saoussen Abroug, Asma Omezzine, Ali Bouslama

Journal:

 

Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but ...

Last Updated: 31 Dec 1969

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Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.
 

Author(s): Neveen A Soliman, Marwa M Nabhan, Safaa M Abdelrahman, Hanan Abdelaziz, Rasha Helmy, Khaled Ghanim, Hafez M Bazaraa, Ahmed M Badr, Omar A Tolba, Magd A Kotb, Khaled M Eweeda, Alaa Fayez

Journal: Nephrol. Ther.. 2017 May;13(3):176-182.

 

Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including ...

Last Updated: 31 Dec 1969

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The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country.
 

Author(s): GholamHossein Naderi, Firouzeh Tabassomi, AmirHossein Latif, MohammadReza Ganji

Journal: Saudi J Kidney Dis Transpl. ;27(4):791-4.

 

Primary hyperoxaluria Type-1 (PH-1) is caused by a deficiency of alanine-glyoxylate aminotransferase manifesting as urolithiasis, nephrocalcinosis, and end-stage renal disease (ESRD). Among treatment options, best outcomes have been achieved by sequential liver-kidney transplantation ...

Last Updated: 31 Dec 1969

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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:

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: 31 Dec 1969

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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: 31 Dec 1969

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Primary hyperoxaluria type 1.
 

Author(s): P Cochat

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

 

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Primary Hyperoxaluria Mutation Genotyping/Phenotyping
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 4 Aug 2017

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A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 6 Apr 2018

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Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 2 Jan 2018

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