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Also known as:5-oxoprolinase deficiency (disease)inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorderinborn error of 5-oxoprolinase (ATP-hydrolyzing) activity
Overview
5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include: Diarrhea, Prolinuria, Vomiting, and Enterocolitis and 4 more.
Organ System
Phenotype Count
Example Features
Digestive system
3
Diarrhea, Vomiting, Abdominal pain
Kidneys and urinary system
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
OPLAH encodes 5-oxoprolinase, ATP-hydrolysing (1,288 aa). Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate Highest expression in Testis (138.7 TPM) and Heart Atrial Appendage (36.5 TPM).
5-oxoprolinase deficiency is associated with mutations in the OPLAH gene on chromosome 8.
The OPLAH protein participates in OPLAH H870Pfs*92, Defective OPLAH causes OPLAHD, and OPLAH hydrolyses OPRO to L-Glu pathways.
OPLAH is classified as a druggable target (Enzyme category) with score 5.2.
Diagnosis
Genetic testing for OPLAH is available. Testing is considered confirmatory for diagnosis.
Prognosis
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for 5-oxoprolinase deficiency.
4 publications have been identified in PubMed for 5-oxoprolinase deficiency. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).
Recent Publications
Koseci B (2026). [PMID: 41675684](https://pubmed.ncbi.nlm.nih.gov/41675684/). *Molecular syndromology*. [Case Report / Case Series]
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
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FAQ
Frequently Asked Questions
Common questions about 5-oxoprolinase deficiency
5-oxoprolinase deficiency is a rare condition that affects the body’s ability to process a chemical called 5-oxoproline. This condition is described as very heterogeneous, meaning that people with this condition can show a variety of different symptoms or clinical features.
The condition is identified by the presence of 5-oxoprolinuria, where 5-oxoproline is found in the urine. Although the overall presentation may vary, the detection of this biochemical abnormality is common among people with the condition.
Information about symptoms is currently limited for this condition.
5-oxoprolinase deficiency is an inborn error, which means it is present from birth. The condition is linked to the OPLAH gene, which is important for the normal functioning of the 5-oxoprolinase enzyme. Abnormalities in this gene can lead to issues with the enzyme’s activity and result in the condition. Associated genes include OPLAH.
FDA approved Casgevy CRISPR gene therapy for children as young as 2 with sickle cell disease on July 1, 2026. Here's what families need to know about this milestone. Approximately 5,500 additional American children are now eligible for this established one-time therapy, according to Vertex Pharmaceuticals, Casgevy's developer. Casgevy also covers transfusion-dependent beta-thalassemia in this new age indication. Sickle cell disease is a lifelong inherited blood disorder that warps red blood cells into stiff, crescent shapes that can block blood flow, starving organs and tissues of oxygen. The world's first CRISPR-based gene therapy has been approved for children as young as two years old, opening the possibility of a single, potentially curative treatment to thousands of American children with sickle cell disease before years of organ damage can narrow what medicine can do for them. Families with children aged 2 and older who have sickle cell disease should speak with their pediatric hematologist about whether Casgevy is appropriate to consider at this stage of their child's disease. Ask specifically which authorized treatment centers perform Casgevy in your region. Treatment is available only at specialized sites, and geographic access remains limited. Contact your child's insurance plan or Medicaid office to ask about coverage. Medicaid coverage for gene therapies varies by state, and some states have developed outcomes-based payment models for high-cost therapies. "With today's decision, pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases," said Karim Mikhail, acting director of the Office of Therapeutic Products at the FDA's Center for Biologics Evaluation and Research, according to the FDA press announcement. Casgevy is a non-viral, ex vivo CRISPR/Cas9 gene-edited cell therapy.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
