Diseases

Ornithine Carbamoyltransferase Deficiency Disease

An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

13 entry terms
  • Deficiency Disease, Ornithine Carbamoyltransferase
  • Deficiency Disease, Ornithine Transcarbamylase
  • OTC Deficiency
  • Ornithine Carbamoyltransferase Deficiency
  • Ornithine Transcarbamylase Deficiency
  • Ornithine Transcarbamylase Deficiency Disease
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
  • Deficiencies, OTC
  • Deficiencies, Ornithine Transcarbamylase
  • Deficiency, OTC
  • Deficiency, Ornithine Transcarbamylase
  • OTC Deficiencies
  • Ornithine Transcarbamylase Deficiencies

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

  • Ornithine Carbamoyltransferase/deficiency (1966-1999)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.937.750w
  2. C16w.320w.322.828w
  3. C16w.320w.565w.100.940.750w
  4. C16w.320w.565w.189.937.750w
  5. C18.452w.132.100.937.500w
  6. C18.452w.648w.100.940.500w
  7. C18.452w.648w.189.937.500w

AMA Style

References

  1. National Library of Medicine. Ornithine Carbamoyltransferase Deficiency Disease. Medical Subject Headings (MeSH). 2026. Unique ID D020163. http://id.nlm.nih.gov/mesh/2026/D020163
  2. Ornithine Carbamoyltransferase Deficiency Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency
  3. Ornithine Carbamoyltransferase Deficiency Disease. In: Wikidata. https://www.wikidata.org/wiki/Q3043161