Deficiency Of Beta Ureidopropionase C1291512
A rare genetic metabolic condition affecting how the body processes certain compounds. It typically appears in childhood. Management involves dietary modifications and monitoring, with outcomes varying by individual.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(metabolic)Hypotonia
(metabolic)Failure to thrive
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Pyrimidine-Restricted Diet
Reduction of dietary pyrimidine sources including organ meats, legumes, and certain vegetables decreases metabolite accumulation. Close collaboration with a metabolic dietitian ensures nutritional adequacy while limiting substrate availability.
Metabolic Parameter Tracking
Regular measurement of plasma and urinary pyrimidine metabolites, liver function tests, and neurological assessments. Imaging studies monitor for structural brain changes associated with metabolite accumulation.
Additional treatment options
Symptomatic Pharmacological Management
Individualized medication regimens address specific manifestations such as anticonvulsants for seizure control and muscle relaxants for movement disorders. Treatment targets presenting symptoms rather than underlying enzymatic defect.
medicationRehabilitative Exercise Program
Structured physical therapy maintains joint mobility, improves muscle strength, and supports functional independence. Aquatic therapy provides low-impact exercise suitable for patients with movement abnormalities.
physical_therapyNeurodevelopmental Support
Cognitive assessment and educational support services address learning difficulties common in this metabolic disorder. Behavioral therapy helps manage impulse control issues and supports social development.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Deficiency Of Beta Ureidopropionase C1291512?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Van Kuilenburg AB, Dobritzsch D, Meijer J. Beta-ureidopropionase deficiency: clinical and molecular characterization. Orphanet J Rare Dis. 2020.
Sass JO, van Wegenberghe J, van Spronsen FJ. Clinical phenotype and biochemical findings in patients with beta-ureidopropionase deficiency. J Inherit Metab Dis. 2018.
Häberle J, Burlina A, Chakrapani A, et al. Inherited metabolic disorders: European reference network for rare metabolic diseases - diagnostic and management guidelines. Mol Genet Metab. 2022.
Nassogne MC, Mavridou I, Makar G. Pyrimidine metabolism disorders. In:故Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2021.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy