Diseases

Hyperargininemia

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)

MeSH Record

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MeSH Record

Synonyms

14 entry terms
  • ARG1 Deficiency
  • Arginase Deficiency
  • Arginase Deficiency Disease
  • Argininemia
  • Deficiency Disease, Arginase
  • ARG1 Deficiencies
  • Arginase Deficiencies
  • Arginase Deficiency Diseases
  • Deficiencies, ARG1
  • Deficiencies, Arginase
  • Deficiency Diseases, Arginase
  • Deficiency, ARG1
  • Deficiency, Arginase
  • Hyperargininemias

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 (1966-1999)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.937.500w
  2. C16w.320w.565w.100.940.500w
  3. C16w.320w.565w.189.937.500w
  4. C18.452w.132.100.937.437w
  5. C18.452w.648w.100.940.437w
  6. C18.452w.648w.189.937.437w

AMA Style

References

  1. National Library of Medicine. Hyperargininemia. Medical Subject Headings (MeSH). 2026. Unique ID D020162. http://id.nlm.nih.gov/mesh/2026/D020162
  2. Hyperargininemia. In: Wikipedia. https://en.wikipedia.org/wiki/Argininemia
  3. Hyperargininemia. In: Wikidata. https://www.wikidata.org/wiki/Q890367