Diseases

Citrullinemia

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

41 entry terms
  • ASS Deficiency
  • Argininosuccinate Synthase Deficiency Disease
  • Argininosuccinate Synthetase Deficiency
  • Argininosuccinic Acid Synthase Deficiency Disease
  • Argininosuccinic Acid Synthetase Deficiency
  • Argininosuccinic Acid Synthetase Deficiency Disease
  • Citrullinuria
  • Deficiency Disease, Argininosuccinate Synthase
  • Deficiency Disease, Argininosuccinic Acid Synthase
  • ASS Deficiencies
  • Argininosuccinate Synthetase Deficiencies
  • Citrullinemias
  • Citrullinurias
  • Deficiencies, Argininosuccinate Synthetase
  • Deficiency, ASS
  • Deficiency, Argininosuccinate Synthetase
  • 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
  • Complete Argininosuccinic Acid Synthetase Deficiency Disease
  • Deficiency, Argininosuccinic Acid Synthetase, Complete
  • Deficiency, Argininosuccinic Acid Synthetase, Partial
  • Partial Argininosuccinic Acid Synthetase Deficiency Disease
  • Citrullinemia, Late Onset
  • Citrullinemias, Classic
  • Classic Citrullinemia
  • Classic Citrullinemias
  • Classical Citrullinemia
  • Classical Citrullinemias
  • Late-Onset Citrullinemia
  • Late-Onset Citrullinemias
  • Neonatal Citrullinemia
  • Neonatal Citrullinemias
  • Type I Citrullinemia
  • Type I Citrullinemias

MeSH Record

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

2000

MeSH Record

Previous Indexing

  • Amino Acid Metabolism, Inborn Errors (1965-1999)
  • Argininosuccinate Synthase/deficiency (1975-1999)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.937.374w
  2. C16w.320w.565w.100.940.374w
  3. C16w.320w.565w.189.937.374w
  4. C18.452w.132.100.937.374w
  5. C18.452w.648w.100.940.374w
  6. C18.452w.648w.189.937.374w

AMA Style

References

  1. National Library of Medicine. Citrullinemia. Medical Subject Headings (MeSH). 2026. Unique ID D020159. http://id.nlm.nih.gov/mesh/2026/D020159
  2. Citrullinemia. In: Wikipedia. https://en.wikipedia.org/wiki/Citrullinemia
  3. Citrullinemia. In: Wikidata. https://www.wikidata.org/wiki/Q859142