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Citrullinemia MeSH Descriptor Data 2023


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
Citrullinemia Preferred
Argininosuccinic Acid Synthetase Deficiency Disease, Partial Narrower
Citrullinemia 1 Narrower
Argininosuccinic Acid Synthetase Deficiency, Complete Narrower
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