DISEASE SCANNER

Global Incurable Diseases Tracker

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Metabolic Disorder

Urea Cycle Disorders

HIGH SEVERITY

A group of inherited metabolic disorders affecting the urea cycle, leading to hyperammonemia. Can present as life-threatening neonatal encephalopathy or later with episodic hyperammonemia. OTC deficiency most common in females; CPS1, ASS, ASL deficiencies also occur.

Global Affected

120.0K

Countries

16

Symptoms

Hyperammonemia
Vomiting
Lethargy
Encephalopathy
Seizures
Coma
Developmental delay
Protein avoidance

Treatment Options

Protein restriction
Scavenger drugs (sodium benzoate, sodium phenylbutyrate)
Carglumic acid
Liver transplantation (curative)
Hemodialysis (acute crises)
IV glucose
Arginine supplementation

Risk Factors

1X-linked (OTC deficiency)
2Autosomal recessive (others)
3Family history
4Consanguinity
5Protein catabolic stress

Diagnostic Methods

  • 1Plasma ammonia
  • 2Plasma amino acids
  • 3Urinary orotic acid
  • 4Enzyme assays
  • 5Genetic testing
  • 6Liver biopsy

Prognosis

Neonatal presentation has high mortality; late-onset better with treatment. Liver transplant curative. Neurodevelopmental outcomes variable.

Prevention

  • Newborn screening
  • Genetic counseling
  • Prenatal diagnosis
  • Emergency protocols
  • Family screening

Research Status

Protein restriction and Scavenger drugs (sodium benzoate, sodium phenylbutyrate) are primary treatments. Research focuses on improved therapies and outcomes.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChinaJapan

Sources

  • https://rarediseases.org/rare-diseases/urea-cycle-disorders
  • https://www.nichd.nih.gov/health/topics/urea-cycle
  • https://www.ncbi.nlm.nih.gov/books/NBK1217

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.