"Citrullinemia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
| Descriptor ID |
D020159
|
| MeSH Number(s) |
C10.228.140.163.100.937.374 C16.320.565.100.940.374 C16.320.565.189.937.374 C18.452.132.100.937.374 C18.452.648.100.940.374 C18.452.648.189.937.374
|
| Concept/Terms |
Citrullinemia- Citrullinemia
- Citrullinemias
- Argininosuccinate Synthetase Deficiency
- Argininosuccinate Synthetase Deficiencies
- Deficiencies, Argininosuccinate Synthetase
- Deficiency, Argininosuccinate Synthetase
- Argininosuccinic Acid Synthase Deficiency Disease
- Argininosuccinic Acid Synthetase Deficiency
- Argininosuccinic Acid Synthetase Deficiency Disease
- Citrullinemia, Type I
- Citrullinemia 1
- Citrullinemia Type 1
- Type 1, Citrullinemia
- Citrullinemia, Classic
- Citrullinemias, Classic
- Classic Citrullinemia
- Classic Citrullinemias
- Citrullinuria
- Citrullinurias
- Deficiency Disease, Argininosuccinate Synthase
- Deficiency Disease, Argininosuccinic Acid Synthase
- Argininosuccinate Synthase Deficiency Disease
- ASS Deficiency
- ASS Deficiencies
- Deficiencies, ASS
- Deficiency, ASS
Argininosuccinic Acid Synthetase Deficiency Disease, Partial- Argininosuccinic Acid Synthetase Deficiency Disease, Partial
- Deficiency, Argininosuccinic Acid Synthetase, Partial
- Partial Argininosuccinic Acid Synthetase Deficiency Disease
- Citrullinemia, Late-Onset
- Citrullinemia, Late Onset
- Citrullinemias, Late-Onset
- Late-Onset Citrullinemia
- Late-Onset Citrullinemias
Argininosuccinic Acid Synthetase Deficiency, Complete- Argininosuccinic Acid Synthetase Deficiency, Complete
- Deficiency, Argininosuccinic Acid Synthetase, Complete
- Complete Argininosuccinic Acid Synthetase Deficiency Disease
- Citrullinemia, Classical
- Citrullinemias, Classical
- Classical Citrullinemia
- Classical Citrullinemias
- Citrullinemia, Neonatal
- Citrullinemias, Neonatal
- Neonatal Citrullinemia
- Neonatal Citrullinemias
|
Below are MeSH descriptors whose meaning is more general than "Citrullinemia".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
- Citrullinemia [C10.228.140.163.100.937.374]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Urea Cycle Disorders, Inborn [C16.320.565.100.940]
- Citrullinemia [C16.320.565.100.940.374]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Urea Cycle Disorders, Inborn [C16.320.565.189.937]
- Citrullinemia [C16.320.565.189.937.374]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Urea Cycle Disorders, Inborn [C18.452.132.100.937]
- Citrullinemia [C18.452.132.100.937.374]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Urea Cycle Disorders, Inborn [C18.452.648.100.940]
- Citrullinemia [C18.452.648.100.940.374]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Urea Cycle Disorders, Inborn [C18.452.648.189.937]
- Citrullinemia [C18.452.648.189.937.374]
Below are MeSH descriptors whose meaning is more specific than "Citrullinemia".
This graph shows the total number of publications written about "Citrullinemia" by people in this website by year, and whether "Citrullinemia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Citrullinemia" by people in Profiles.
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A "Faux" Case of Acute Liver Failure in a 28-Year-Old Pregnant Woman. Hepatology. 2018 09; 68(3):1200-1202.