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hyperprolinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperprolinemia

MONDO:0023419

Also known as:hyperprolinemia type 1proline hydrogenase deficiencyproline oxidase deficiency

Overview

Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.

ResearchLimited published research (6 articles)

Diagnosis

Biomarker and diagnostic research for hyperprolinemia has been reported in the published literature.

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 hyperprolinemia.

6 publications have been identified in PubMed for hyperprolinemia. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Review / Meta-Analysis (17%).

Recent Publications

Kido J (2026). [PMID: 42150437](https://pubmed.ncbi.nlm.nih.gov/42150437/). *Mol Genet Metab*. [Case Report / Case Series]
AlQurashi FO (2025). [PMID: 41602883](https://pubmed.ncbi.nlm.nih.gov/41602883/). *Frontiers in pediatrics*. [Case Report / Case Series]
Carvalho GA (2025). [PMID: 39826672](https://pubmed.ncbi.nlm.nih.gov/39826672/). *Neuroscience*. [Review / Meta-Analysis]
Nergiz M (2024). [PMID: 38917678](https://pubmed.ncbi.nlm.nih.gov/38917678/). *Journal of chromatography. A*. [Diagnostic / Biomarker]
Kanzariya DB (2024). [PMID: 38241930](https://pubmed.ncbi.nlm.nih.gov/38241930/). *Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy*. [Diagnostic / Biomarker]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:2847

Questions for Your Care Team

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hyperprolinemia

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team