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Disease Citrullinemia

Name Citrullinemia
Synonyms Argininosuccinate Synthase Deficiency Disease | Argininosuccinate Synthetase Deficiencies | Argininosuccinate Synthetase Deficiency | Argininosuccinic Acid Synthase Deficiency Disease | Argininosuccinic Acid Synthetase Deficiency | Argininosuccinic Acid Synthetase Deficiency, Complete | Argininosuccinic Acid Synthetase Deficiency Disease | Argininosuccinic Acid Synthetase Deficiency Disease, Partial | ASS Deficiencies | ASS Deficiency | Citrullinemia 1 | Citrullinemia, Classic | Citrullinemia, Classical | Citrullinemia, Late Onset | Citrullinemia, Late-Onset | Citrullinemia, Neonatal | Citrullinemias | Citrullinemias, Classic | Citrullinemias, Classical | Citrullinemias, Late-Onset | Citrullinemias, Neonatal | Citrullinemia Type 1 | Citrullinemia, Type I | Citrullinuria | Citrullinurias | Classical Citrullinemia | Classical Citrullinemias | Classic Citrullinemia | Classic Citrullinemias | Complete Argininosuccinic Acid Synthetase Deficiency Disease | CTLN1 | Deficiencies, Argininosuccinate Synthetase | Deficiencies, ASS | Deficiency, Argininosuccinate Synthetase | Deficiency, Argininosuccinic Acid Synthetase, Complete | Deficiency, Argininosuccinic Acid Synthetase, Partial | Deficiency, ASS | Deficiency Disease, Argininosuccinate Synthase | Deficiency Disease, Argininosuccinic Acid Synthase | Late-Onset Citrullinemia | Late-Onset Citrullinemias | Neonatal Citrullinemia | Neonatal Citrullinemias | Partial Argininosuccinic Acid Synthetase Deficiency Disease | Type 1, Citrullinemia
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D020159
OMIM® ID 215700
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Citrullinemia Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Citrullinemia Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Citrullinemia Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Citrullinemia Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Citrullinemia Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Citrullinemia Has associated chemicals Has associated genes

Top ↑ Descendants

Citrullinemia Has associated chemicals Has associated genes
  Adult-onset citrullinemia type 2 Has associated chemicals Has associated genes
  CTNL1
  Neonatal-onset citrullinemia type 2 Has associated chemicals Has associated genes