| Descriptor English: | Argininosuccinic Aciduria | ||||||
| Descriptor Spanish: |
Aciduria Argininosuccínica
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| Descriptor Portuguese: | Acidúria Argininossuccínica | ||||||
| Descriptor French: | Acidurie arginosuccinique | ||||||
| Entry term(s): |
ASA Deficiencies ASA Deficiency ASL Deficiencies ASL Deficiency Acidemia, Argininosuccinate Acidemias, Argininosuccinate Aciduria, Argininosuccinic Acidurias, Argininosuccinic Arginino Succinase Deficiencies Arginino Succinase Deficiency Argininosuccinase Deficiency Argininosuccinate Acidemia Argininosuccinate Acidemias Argininosuccinate Lyase Deficiencies Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency Argininosuccinic Acidemia Argininosuccinic Acidurias Argininosuccinicaciduria Argininosuccinicacidurias Argininosuccinyl-Coa Lyase Deficiency Arginosuccinase Deficiency Asauria Deficiencies, ASA Deficiencies, ASL Deficiencies, Arginino Succinase Deficiencies, Argininosuccinate Lyase Deficiency, ASA Deficiency, ASL Deficiency, Arginino Succinase Deficiency, Argininosuccinate Lyase Inborn Error of Urea Synthesis, Arginino Succinic Type Urea Cycle Disorder, Arginino Succinase Type |
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| Tree number(s): |
C10.228.140.163.100.937.124 C16.320.565.100.940.124 C16.320.565.189.937.124 C18.452.132.100.937.124 C18.452.648.100.940.124 C18.452.648.189.937.124 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D056807 | ||||||
| Scope note: | Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Amino Acid Metabolism, Inborn Errors (1664-2009) |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| Related: |
Argininosuccinate Lyase
MeSH | ||||||
| DeCS ID: | 53508 | ||||||
| Unique ID: | D056807 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2010/01/01 | ||||||
| Date of Entry: | 2009/07/06 | ||||||
| Revision Date: | 2013/07/08 |
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Argininosuccinic Aciduria
- Preferred
| Concept UI |
M0529172 |
| Scope note | Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. |
| Preferred term | Argininosuccinic Aciduria |
| Entry term(s) |
ASA Deficiencies ASA Deficiency ASL Deficiencies ASL Deficiency Acidemia, Argininosuccinate Acidemias, Argininosuccinate Aciduria, Argininosuccinic Acidurias, Argininosuccinic Arginino Succinase Deficiencies Arginino Succinase Deficiency Argininosuccinase Deficiency Argininosuccinate Acidemia Argininosuccinate Acidemias Argininosuccinate Lyase Deficiencies Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency Argininosuccinic Acidemia Argininosuccinic Acidurias Argininosuccinicaciduria Argininosuccinicacidurias Argininosuccinyl-Coa Lyase Deficiency Arginosuccinase Deficiency Asauria Deficiencies, ASA Deficiencies, ASL Deficiencies, Arginino Succinase Deficiencies, Argininosuccinate Lyase Deficiency, ASA Deficiency, ASL Deficiency, Arginino Succinase Deficiency, Argininosuccinate Lyase Inborn Error of Urea Synthesis, Arginino Succinic Type Urea Cycle Disorder, Arginino Succinase Type |
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