Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Alanine aminotransferase increased
Always present (100%)HP:0031964
Dihydropyrimidine dehydrogenase deficiency
Always present (100%)HP:0003654
Dihydrouracil high in urine
Always present (100%)HP:6000118
Elevated circulating aldolase concentration
Always present (100%)HP:0012544
Elevated circulating thymine concentration
Always present (100%)HP:4000095
Elevated CSF dihydrouracil concentration
Always present (100%)HP:6000211
Elevated serum aspartate aminotransferase
Always present (100%)HP:0031956
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Elevated urinary dihydrothymine level
Always present (100%)HP:6000119
Hyperactive behaviour
Always present (100%)HP:0000752
Muscle cramps with exertion
Always present (100%)HP:0003710
Speech difficulties
Always present (100%)HP:0000750
Uraciluria
Always present (100%)HP:0012127
Elevated circulating uracil concentration
Frequent (30-79%)HP:0033139
Epilepsy
Frequent (30-79%)HP:0001250
Feeding difficulties
Frequent (30-79%)HP:0011968
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Autism
Occasional (5-29%)HP:0000717
Corticospinal signs
Occasional (5-29%)HP:0007256
Decreased size of cranium
Occasional (5-29%)HP:0000252
Growth failure
Occasional (5-29%)HP:0001510
Postnatal failure to thrive
Occasional (5-29%)HP:0001508
Abnormal pyramidal tract morphology
HP:0002062
Abnormality of the cerebral white matter
HP:0002500
Absent anus
HP:0002023
Elevated circulating dihydrouracil concentration
HP:0034593
Elevated urinary thymine level
HP:6000331
Excessive daytime somnolence
HP:0001262
Extrapyramidal dyskinesia
HP:0007308
Fetal foot inversion
HP:0001762
Related Conditions
Quick Facts
- SNOMED CT
- 238014002
- UMLS CUI
- C0342803
- Fully Specified Name
- Dihydropyrimidinase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.