MeSH Browser

MeSH Heading: Citrullinemia
Tree 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
Unique ID: D020159
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D020159
Scope Note: 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)
Entry Term(s): ASS Deficiency; Argininosuccinate Synthase Deficiency Disease; Argininosuccinate Synthetase Deficiency; Argininosuccinic Acid Synthase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency; Argininosuccinic Acid Synthetase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease, Partial; Argininosuccinic Acid Synthetase Deficiency, Complete; Citrullinemia 1; Citrullinemia Type 1; Citrullinemia, Classic; Citrullinemia, Classical; Citrullinemia, Late-Onset; Citrullinemia, Neonatal; Citrullinemia, Type I; Citrullinuria; Complete Argininosuccinic Acid Synthetase Deficiency Disease; Deficiency Disease, Argininosuccinate Synthase; Deficiency Disease, Argininosuccinic Acid Synthase; Deficiency, Argininosuccinic Acid Synthetase, Complete; Deficiency, Argininosuccinic Acid Synthetase, Partial; Partial Argininosuccinic Acid Synthetase Deficiency Disease
Previous Indexing: Amino Acid Metabolism, Inborn Errors (1965-1999); Argininosuccinate Synthase/deficiency (1975-1999)
See Also: Argininosuccinate Synthase
Public MeSH Note: 2000
History Note: 2000
Date Established: 2000/01/01
Date of Entry: 1999/11/03
Revision Date: 2020/05/27

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]
        
        Argininosuccinic Aciduria [C10.228.140.163.100.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C10.228.140.163.100.937.249]
        
        Citrullinemia [C10.228.140.163.100.937.374]
        
        Hyperargininemia [C10.228.140.163.100.937.500]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C10.228.140.163.100.937.750]

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]
        
        Argininosuccinic Aciduria [C16.320.565.100.940.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.100.940.249]
        
        Citrullinemia [C16.320.565.100.940.374]
        
        Hyperargininemia [C16.320.565.100.940.500]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.100.940.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Urea Cycle Disorders, Inborn [C16.320.565.189.937]
        
        Argininosuccinic Aciduria [C16.320.565.189.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.189.937.249]
        
        Citrullinemia [C16.320.565.189.937.374]
        
        Hyperargininemia [C16.320.565.189.937.500]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.189.937.750]

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]
        
        Argininosuccinic Aciduria [C18.452.132.100.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.132.100.937.249]
        
        Citrullinemia [C18.452.132.100.937.374]
        
        Hyperargininemia [C18.452.132.100.937.437]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C18.452.132.100.937.500]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
      - Urea Cycle Disorders, Inborn [C18.452.648.100.940]
        
        Argininosuccinic Aciduria [C18.452.648.100.940.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.648.100.940.249]
        
        Citrullinemia [C18.452.648.100.940.374]
        
        Hyperargininemia [C18.452.648.100.940.437]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C18.452.648.100.940.500]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Urea Cycle Disorders, Inborn [C18.452.648.189.937]
        
        Argininosuccinic Aciduria [C18.452.648.189.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.648.189.937.249]
        
        Citrullinemia [C18.452.648.189.937.374]
        
        Hyperargininemia [C18.452.648.189.937.437]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C18.452.648.189.937.500]

Citrullinemia Preferred

Argininosuccinic Acid Synthetase Deficiency Disease, Partial Narrower

Argininosuccinic Acid Synthetase Deficiency, Complete Narrower

Citrullinemia 1 Narrower

Concept UI: M000649001
Terms: Citrullinemia 1 Preferred Term
Term UI T734479
Date02/04/2009
LexicalTag NON
ThesaurusID; Citrullinemia Type 1
Term UI T734476
Date02/04/2009
LexicalTag NON
ThesaurusID; Citrullinemia, Classic
Term UI T734475
Date02/04/2009
LexicalTag NON
ThesaurusID; Citrullinemia, Type I
Term UI T812068
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Citrullinemia, Classical
Term UI T367166
Date10/12/1999
LexicalTag NON
ThesaurusID NLM (2000)

Citrullinemia MeSH Descriptor Data 2025