SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03385876 (Rapid Whole Genome Sequencing), which is not on this map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Rapid Whole Genome Sequencing (rWGS): Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.Genome medicine · 2026Pooled it
- Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.Molecular genetics and metabolism reports · 2025Article
- IgA-Dominant Mesangial Proliferative Glomerulonephritis in Prolidase Deficiency.Kidney international reports · 2025Article
- Interstitial Lung Disease in a Girl with Prolidase Deficiency.Journal of clinical immunology · 2025Article
- Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.Turkish archives of pediatrics · 2025Article
- Machine learning-assisted analysis of serum metabolomics for identifying biomarkers in intrinsic and idiosyncratic drug-induced liver injury.Frontiers in pharmacology · 2025Article
- Prolidase Deficiency Presenting With Pulmonary Arteriovenous Malformations and Seizures: Report of Two Cases From Iran.Case reports in pediatrics · 2025Article
- Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome.Journal of pediatric genetics · 2024Article
- Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.Molecular syndromology · 2024Article
- Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency-The Specificity of Treatment and Care: A Case Report.Medicina (Kaunas, Lithuania) · 2024Observational
- Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC.Frontiers in immunology · 2021Article
- Chronic Liver Disease in Patients with Prolidase Deficiency: A Case Series.Case reports in gastroenterologyArticle
Corrections and comments
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Authors and funding
33 authors at 19 institutions in 5 countries.
Funding
Abstract
purposeProlidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. We aim to provide a quantitative description of the natural history of the condition by describing 19 affected individuals and reviewing the literature.
methodsNineteen patients were phenotyped per local institutional procedures. A systematic review following PRISMA criteria identified 132 articles describing 161 patients. Main outcome analyses were performed for manifestation frequency, diagnostic delay, overall survival, symptom-free survival, and ulcer-free survival.
resultsOur cohort presented a wide variability of severity. Autoimmune disorders were found in 6/19, including Crohn disease, systemic lupus erythematosus, and arthritis. Another immune finding was hemophagocytic lymphohistiocytosis (HLH). Half of published patients were symptomatic by age 4 and had a delayed diagnosis (mean delay 11.6 years). Ulcers were present initially in only 30% of cases, with a median age of onset at 12 years old.
conclusionProlidase deficiency has a broad range of manifestations. Symptoms at onset may be nonspecific, likely contributing to the diagnostic delay. Testing for this disorder should be considered in any child with unexplained autoimmunity, lower extremity ulcers, splenomegaly, or HLH.
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