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hyperprolinemia type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperprolinemia type 1

MONDO:0009400

Also known as:PRODH hyperprolinemiahyperprolinemia caused by mutation in PRODHproline oxidase deficiency

Overview

Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

GeneticsAutosomal recessive · PRODH (chr 22)

ResearchLimited published research (3 articles)

Clinical Presentation

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 always present findings: Delayed speech and language development, Hyperprolinemia, and Intellectual disability; and common findings: Seizure, Global developmental delay, Ataxia, and Hyperglycinuria. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Status epilepticus, Delayed speech and language development, Seizure

Genetic Landscape

PRODH function has not been fully characterized.

Hyperprolinemia type 1 is caused by mutations in the PRODH gene on chromosome 22.

Diagnosis

Genetic testing for PRODH is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 type 1.

3 publications have been identified in PubMed for hyperprolinemia type 1. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

Kido J (2026). [PMID: 42150437](https://pubmed.ncbi.nlm.nih.gov/42150437/). *Mol Genet Metab*. [Case Report / Case Series]
Forlani G (2025). [PMID: 41441019](https://pubmed.ncbi.nlm.nih.gov/41441019/). *Metabolites*. [Basic Science / Preclinical]
Yao Y (2024). [PMID: 37815900](https://pubmed.ncbi.nlm.nih.gov/37815900/). *Aging Dis*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 3:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:239500

Orphanet

European rare disease database

Orphanet:419

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperprolinemia type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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