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Ornithine Carbamoyltransferase Deficiency Disease MeSH Descriptor Data 2022


MeSH Heading
Ornithine Carbamoyltransferase Deficiency Disease
Tree Number(s)
C10.228.140.163.100.937.750
C16.320.322.828
C16.320.565.100.940.750
C16.320.565.189.937.750
C18.452.132.100.937.500
C18.452.648.100.940.500
C18.452.648.189.937.500
Unique ID
D020163
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D020163
Scope Note
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)
Entry Version
ORNITHINE CARBAMOYLTRANSFERASE DEFIC DIS
Entry Term(s)
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
Previous Indexing
Ornithine Carbamoyltransferase/deficiency (1966-1999)
See Also
Ornithine Carbamoyltransferase
Public MeSH Note
2000
History Note
2000
Date Established
2000/01/01
Date of Entry
1999/11/03
Revision Date
2013/07/08
Ornithine Carbamoyltransferase Deficiency Disease Preferred
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