|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Urea Cycle Disorders, Inborn
|
|
Descriptor Spanish:
|
|
Trastornos Innatos del Ciclo de la Urea
|
|
Descriptor Portuguese:
|
|
Distúrbios Congęnitos do Ciclo da Ureia
|
|
Synonyms English:
|
|
Disorder, Urea Cycle
Disorders, Urea Cycle
Inborn Urea Cycle Disorder
Urea Cycle Disorder
Urea Cycle Disorders
|
|
Tree Number:
|
|
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
|
|
Definition English:
|
|
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. |
|
History Note English:
|
|
2010
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
53507
|
|
Unique Identifier:
|
|
D056806
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|