Pyroglutamic acidemia

Common Name(s)

Pyroglutamic acidemia, 5-Oxoprolinuria, Gluthathione synthetase deficiency, 5-OXO, Pyroglutamic aciduria

Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxoprolinuria (excess excretion of 5-oxoproline in urine). Moderate disease may cause anemia, 5-oxoprolinuria, and metabolic acidosis in early infancy. Severe disease may cause anemia, 5-oxoprolinuria, metabolic acidosis, neurological symptoms (e.g., seizures, learning disability, loss of coordination), and recurrent infections. It is caused by mutations in the GSS gene and is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyroglutamic acidemia" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 18 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyroglutamic acidemia" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 18 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 "Pyroglutamic acidemia" returned 3 free, full-text research articles on human participants. First 3 results:

Profound metabolic acidosis from pyroglutamic acidemia: an underappreciated cause of high anion gap metabolic acidosis.
 

Author(s): Thomas J Green, Jan Jaap Bijlsma, David D Sweet

Journal: CJEM. 2010 Sep;12(5):449-52.

 

The workup of the emergency patient with a raised anion gap metabolic acidosis includes assessment of the components of “MUDPILES” (methanol; uremia; diabetic ketoacidosis; paraldehyde; isoniazid, iron or inborn errors of metabolism; lactic acid; ethylene glycol; salicylates). ...

Last Updated: 6 Oct 2010

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[Pyroglutamic acidemia associated with acetaminophen].
 

Author(s): F J Alados Arboledas, P de la Oliva Senovilla, Ma J García Muñoz, A Alonso Melgar, F Ruza Tarrío

Journal: An Pediatr (Barc). 2007 Dec;67(6):582-4.

 

We report a case of pyroglutamic acidemia probably related to acetaminophen administration. A 16-month boy recovering from hemolytic uremic syndrome abruptly developed unexplained high anion gap metabolic acidosis requiring hemodialysis. Septic shock, lactic acidosis and salicylate ...

Last Updated: 6 Dec 2007

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Pyroglutamic acidemia in an adult patient.
 

Author(s): M H Creer, B W Lau, J D Jones, K M Chan

Journal: Clin. Chem.. 1989 Apr;35(4):684-6.

 

Pyroglutamic acidemia, a rare metabolic disorder, usually appears in infancy. It is characterized by retardation, ataxia, hemolytic anemia, and chronic acidosis and is caused by a marked deficiency of glutathione synthetase (EC 6.3.2.3) activity. This disease is inherited as an autosomal ...

Last Updated: 22 May 1989

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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 "Pyroglutamic acidemia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.