| Descriptor English: | Urea Cycle Disorders, Inborn | ||||||
| Descriptor Spanish: |
Trastornos Innatos del Ciclo de la Urea
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| Descriptor Portuguese: | Distúrbios Congênitos do Ciclo da Ureia | ||||||
| Descriptor French: | Anomalies congénitales du cycle de l'urée | ||||||
| Entry term(s): |
Disorder, Urea Cycle Disorders, Urea Cycle Inborn Urea Cycle Disorder Urea Cycle Disorder Urea Cycle Disorders |
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| Tree number(s): |
C10.228.140.163.100.937 C16.320.565.100.940 C16.320.565.189.937 C18.452.132.100.937 C18.452.648.100.940 C18.452.648.189.937 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D056806 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Urea/metabolism (1977-2009) |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| DeCS ID: | 53507 | ||||||
| Unique ID: | D056806 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2010/01/01 | ||||||
| Date of Entry: | 2009/07/06 |
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Urea Cycle Disorders, Inborn
- Preferred
| Concept UI |
M0529166 |
| Scope note | 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. |
| Preferred term | Urea Cycle Disorders, Inborn |
| Entry term(s) |
Disorder, Urea Cycle Disorders, Urea Cycle Inborn Urea Cycle Disorder Urea Cycle Disorder Urea Cycle Disorders |
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