Diseases

Inborn Urea Cycle Disorders

Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.

MeSH Record

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MeSH Record

Synonyms

6 entry terms
  • Inborn Urea Cycle Disorder
  • Urea Cycle Disorders
  • Urea Cycle Disorders, Inborn
  • Disorder, Urea Cycle
  • Disorders, Urea Cycle
  • Urea Cycle Disorder

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Record

Previous Indexing

  • Urea/metabolism (1977-2009)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.937
  2. C16w.320w.565w.100.940
  3. C16w.320w.565w.189.937
  4. C18.452w.132.100.937
  5. C18.452w.648w.100.940
  6. C18.452w.648w.189.937

AMA Style

References

  1. National Library of Medicine. Inborn Urea Cycle Disorders. Medical Subject Headings (MeSH). 2026. Unique ID D056806. http://id.nlm.nih.gov/mesh/2026/D056806
  2. Inborn Urea Cycle Disorders. In: Wikidata. https://www.wikidata.org/wiki/Q1585743