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

Rare Disease

dihydropyrimidinuria

MONDO:0009111

Also known as:dihydropyrimidinase deficiencyDPYSDDph deficiency

Find Clinical TrialsTrials

Overview

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

GeneticsAutosomal recessive · DPYS (chr 8)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (5 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: Reduced dihydropyrimidine dehydrogenase level, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated CSF dihydrouracil concentration, and Elevated urinary dihydrouracil level and others; and common findings: Seizure, Intellectual disability, Feeding difficulties, and Elevated circulating uracil concentration. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	7

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.

DPYS encodes dihydropyrimidinase (519 aa). Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Highest expression in Liver (132.8 TPM) and Kidney Cortex (39.1 TPM).

Dihydropyrimidinuria is associated with mutations in the DPYS gene on chromosome 8.

DPYS is classified as a druggable target (Enzyme category) with score 0.8.

Diagnosis

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

Prognosis

Phenotype severity distribution: 13 always present features, 4 common features.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

5 publications have been identified in PubMed for dihydropyrimidinuria. Research spans Case Report / Case Series (80%) and Epidemiology / Natural History (20%).

Recent Publications

Hao N (2026). [PMID: 41691317](https://pubmed.ncbi.nlm.nih.gov/41691317/). *Hum Genomics*. [Epidemiology / Natural History]
Mohideen SB (2025). [PMID: 39126710](https://pubmed.ncbi.nlm.nih.gov/39126710/). *Laboratory medicine*. [Case Report / Case Series]
Malekkou A (2024). [PMID: 38528593](https://pubmed.ncbi.nlm.nih.gov/38528593/). *BMC medical genomics*. [Case Report / Case Series]
Erdal İ (2024). [PMID: 38958169](https://pubmed.ncbi.nlm.nih.gov/38958169/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]
Li J (2024). [PMID: 39558747](https://pubmed.ncbi.nlm.nih.gov/39558747/). *Pediatrics*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:222748

Orphanet

European rare disease database

Orphanet:38874

GARD

Genetic and Rare Diseases Info Center

GARD:12347

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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dihydropyrimidinuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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