Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Argininosuccinic Aciduria
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Argininosuccinic Aciduria
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Argininosuccinic Aciduria
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Argininosuccinic Aciduria
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Argininosuccinic Aciduria
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Argininosuccinic Aciduria

Preferred term

Argininosuccinic Aciduria  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

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.

History note

  • 2010

In other languages

URI

http://www.yso.fi/onto/mesh/D056807

Download this concept:

RDF/XML TURTLE JSON-LD Created 7/6/09, last modified 7/8/13