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Beta-ureidopropionase deficiency

MeSH: C563210ORPHA: 65287

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Beta-ureidopropionase deficiency, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilitySeizureHypotoniaGlobal developmental delayReduced hepatic beta-ureidopropionase activityElevated urinary dihydrouracil levelElevated urinary dihydrothymine levelElevated urinary N-carbamoyl-beta-alanine levelElevated urinary N-carbamyl-beta-aminoisobutyric acid levelMicrocephalyAutismDelayed speech and language developmentGrowth delayCerebral atrophyCortical dysplasiaDelayed myelination

Classification & Codes

MeSH Code

C563210

Orphanet Code

ORPHA:65287
Beta-ureidopropionase deficiency
MeSHC563210
OrphanetORPHA:65287
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO