Deficiency of beta-ureidopropionase

disorder

SNOMED 124511000CUI C1291512

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration

Always present (100%)HP:6000696

Elevated urinary ureidopropionic acid level

Always present (100%)HP:6000534

Central hypotonia

Frequent (30-79%)HP:0001252

Dihydrouracil high in urine

Frequent (30-79%)HP:6000118

Elevated urinary dihydrothymine level

Frequent (30-79%)HP:6000119

Elevated urinary N-carbamoyl-beta-alanine level

Frequent (30-79%)HP:6000279

Elevated urinary N-carbamyl-beta-aminoisobutyric acid level

Frequent (30-79%)HP:6000623

Mental deficiency

Frequent (30-79%)HP:0001249

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Reduced hepatic beta-ureidopropionase activity

Frequent (30-79%)HP:6000082

Seizures

Frequent (30-79%)HP:0001250

Autism

Occasional (5-29%)HP:0000717

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Cortical dysplasia

Occasional (5-29%)HP:0002539

Degeneration of cerebrum

Occasional (5-29%)HP:0002059

Delayed CNS myelination

Occasional (5-29%)HP:0002188

Delayed motor milestones

Occasional (5-29%)HP:0001270

Delayed myelination

Occasional (5-29%)HP:0012448

Dystonic disease

Occasional (5-29%)HP:0001332

Higher than normal levels of lactate in blood

Occasional (5-29%)HP:0002151

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Loss of consciousness

Occasional (5-29%)HP:0007185

Metabolic acidosis

Occasional (5-29%)HP:0001942

Poor growth

Occasional (5-29%)HP:0001510

Prolonged seizure

Occasional (5-29%)HP:0002133

Speech and language difficulties

Occasional (5-29%)HP:0000750

Abnormal vocalization

HP:0002167

Absent anus

HP:0002023

Bladder exstrophy

HP:0002836

Decreased size of cranium

HP:0000252

Related Conditions

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 124511000
UMLS CUI: C1291512
Fully Specified Name: Deficiency of beta-ureidopropionase (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.