| Descriptor English: | Ornithine Carbamoyltransferase Deficiency Disease | ||||||
| Descriptor Spanish: |
Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa
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| Descriptor Portuguese: | Doença da Deficiência de Ornitina Carbomoiltransferase | ||||||
| Descriptor French: | Déficit en ornithine carbamyl transférase | ||||||
| Entry term(s): |
Deficiencies, OTC Deficiencies, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency Disease, Ornithine Transcarbamylase Deficiency, OTC Deficiency, Ornithine Transcarbamylase OTC Deficiencies OTC Deficiency Ornithine Carbamoyltransferase Deficiency Ornithine Transcarbamylase Deficiencies Ornithine Transcarbamylase Deficiency Ornithine Transcarbamylase Deficiency Disease Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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| 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 |
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| RDF Unique Identifier: | https://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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Ornithine Carbamoyltransferase/deficiency (1966-1999) |
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| Public MeSH Note: | 2000 |
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| History Note: | 2000 |
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| Entry Version: | ORNITHINE CARBAMOYLTRANSFERASE DEFIC DIS |
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| Related: |
Ornithine Carbamoyltransferase
MeSH | ||||||
| DeCS ID: | 34234 | ||||||
| Unique ID: | D020163 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/03 | ||||||
| Revision Date: | 2013/07/08 |
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Ornithine Carbamoyltransferase Deficiency Disease
- Preferred
| Concept UI |
M0328321 |
| 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) |
| Preferred term | Ornithine Carbamoyltransferase Deficiency Disease |
| Entry term(s) |
Deficiencies, OTC Deficiencies, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency Disease, Ornithine Transcarbamylase Deficiency, OTC Deficiency, Ornithine Transcarbamylase OTC Deficiencies OTC Deficiency Ornithine Carbamoyltransferase Deficiency Ornithine Transcarbamylase Deficiencies Ornithine Transcarbamylase Deficiency Ornithine Transcarbamylase Deficiency Disease Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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