Diseases

Argininosuccinic Aciduria

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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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Synonyms

33 entry terms
  • ASA Deficiency
  • ASL Deficiency
  • Arginino Succinase Deficiency
  • Argininosuccinase Deficiency
  • Argininosuccinate Acidemia
  • Argininosuccinate Lyase Deficiency
  • Argininosuccinic Acid Lyase Deficiency
  • Argininosuccinic Acidemia
  • Argininosuccinicaciduria
  • Argininosuccinyl-Coa Lyase Deficiency
  • Arginosuccinase Deficiency
  • Asauria
  • Inborn Error of Urea Synthesis, Arginino Succinic Type
  • Urea Cycle Disorder, Arginino Succinase Type
  • ASA Deficiencies
  • ASL Deficiencies
  • Acidemia, Argininosuccinate
  • Acidemias, Argininosuccinate
  • Aciduria, Argininosuccinic
  • Acidurias, Argininosuccinic
  • Arginino Succinase Deficiencies
  • Argininosuccinate Acidemias
  • Argininosuccinate Lyase Deficiencies
  • Argininosuccinic Acidurias
  • Argininosuccinicacidurias
  • Deficiencies, ASA
  • Deficiencies, ASL
  • Deficiencies, Arginino Succinase
  • Deficiencies, Argininosuccinate Lyase
  • Deficiency, ASA
  • Deficiency, ASL
  • Deficiency, Arginino Succinase
  • Deficiency, Argininosuccinate Lyase

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Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Record

Previous Indexing

  • Amino Acid Metabolism, Inborn Errors (1664-2009)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.937.124w
  2. C16w.320w.565w.100.940.124w
  3. C16w.320w.565w.189.937.124w
  4. C18.452w.132.100.937.124w
  5. C18.452w.648w.100.940.124w
  6. C18.452w.648w.189.937.124w

AMA Style

References

  1. National Library of Medicine. Argininosuccinic Aciduria. Medical Subject Headings (MeSH). 2026. Unique ID D056807. http://id.nlm.nih.gov/mesh/2026/D056807
  2. Argininosuccinic Aciduria. In: Wikipedia. https://en.wikipedia.org/wiki/Argininosuccinic_aciduria
  3. Argininosuccinic Aciduria. In: Wikidata. https://www.wikidata.org/wiki/Q1654860