Traits

Traits linked to UPB1

beta-ureidopropionase 1

The Human Phenotype Ontology links 36 traits to UPB1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Autism	Sometimes (5–29%)
Cortical dysplasia	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Loss of consciousness	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)
Abnormal speech pattern	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration	Always
Elevated urinary ureidopropionic acid level	Always
Reduced hepatic beta-ureidopropionase activity	Always
Elevated urinary dihydrothymine level	Often (30–79%)
Elevated urinary dihydrouracil level	Often (30–79%)
Elevated urinary N-carbamoyl-beta-alanine level	Often (30–79%)
Elevated urinary N-carbamyl-beta-aminoisobutyric acid level	Often (30–79%)
Higher than normal levels of lactate in blood	Sometimes (5–29%)
Metabolic acidosis	Sometimes (5–29%)
Elevated circulating N-carbamoyl-beta-alanine concentration	Not recorded
Elevated CSF N-carbamyl-beta-alanine concentration	Not recorded
Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration	Not recorded
Elevated urinary ureidoisobutyric acid level	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Low muscle tone, in neonatal onset	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Not recorded
Bladder exstrophy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cleft of scrotum	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to UPB1 and how often each is seen. Find out more at hpo.jax.org.

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