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DeCS
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Descriptor English:
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Ornithine Carbamoyltransferase Deficiency Disease
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Descriptor Spanish:
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Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa
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Descriptor Portuguese:
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Doença da Deficiência de Ornitina Carbomoiltransferase
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Synonyms English:
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Ornithine Transcarbamylase Deficiency Disease
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Tree Number:
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C10.228.140.163.100.650
C16.320.565.100.729
C16.320.565.189.650
C18.452.132.100.650
C18.452.648.100.729
C18.452.648.189.650
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Definition English:
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An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as a sex-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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Indexing Annotation English:
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consider also ORNITHINE CARBAMOYLTRANSFERASE /defic
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See Related English:
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Ornithine Carbamoyltransferase
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34234
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Unique Identifier:
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D020163
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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