National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

5-oxoprolinase deficiency


Other Names:
Oxoprolinuria due to 5-oxoprolinase deficiency; 5-alpha-oxoprolinase deficiency
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 33572

Definition
A very heterogeneous condition characterized by 5-oxoprolinuria.

Epidemiology
It has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria.

Clinical description
Symptoms reported in individual patients include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.

Etiology
5-Oxoprolinase catalyses a step in the gamma-glutamyl cycle (glutathione metabolism).

Diagnostic methods
The diagnosis is based on the finding of 5-oxoprolinuria and on the low activity of 5-oxoprolinase.

Differential diagnosis
Other causes of 5-oxoprolinuria include glutathione synthetase deficiency (see this term), diet (certain infant formulas and tomato juice), severe burns, Stevens-Johnson syndrome (see this term), inborn errors of metabolism not involving the gamma-glutamyl cycle, e.g. X-linked ornithine trancarbamylase deficiency, urea cycle defects, or tyrosinemia, as well as homocystinuria (see these terms), drug metabolism (paracetamol, vigabatrin, flucloxacillin, netilmicin), prematurity, malnutrition, pregnancy and nephropatic cystinosis.

Genetic counseling
The disease is transmitted as an autosomal recessive trait.

Management and treatment
No specific treatment has been proposed or tested.

Prognosis
The prognosis is difficult to predict as only eight patients with different clinical symptoms have been described.

Visit the Orphanet disease page for more resources.
Last updated: 3/1/2007

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Calcium oxalate nephrolithiasis 0008672
Diarrhea
Watery stool
0002014
Enterocolitis 0004387
Increased level of L-pyroglutamic acid in urine 0410132
Prolinuria 0003137
Reduced 5-oxoprolinase level 0040142
Vomiting
Throwing up
0002013
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 5-oxoprolinase deficiency. Click on the link to view a sample search on this topic.

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