dihydropyrimidinuria
Findings
No curated finding names dihydropyrimidinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009111), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aldolase concentrationHPOHP:0012544
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Elevated circulating thymine concentrationHPOHP:4000095
- 2 of 2 reported patients
Show the remaining 19
- UraciluriaHPOHP:0012127
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 12 of 19 reported patients
- Frequent (30% to 79% of cases)
- Elevated urinary thymine levelHPOHP:6000331
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 6 of 20 reported patients
- Frequent (30% to 79% of cases)
- Elevated circulating uracil concentrationHPOHP:0033139
- 1 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DPYSHGNC:3013
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: dihydropyrimidinuria
- Also called
- dihydropyrimidinase deficiency