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Definition (MSH)
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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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Definition (NCI)
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An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.
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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
D020163
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| ICD10 |
E72.4
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| SnomedCT |
124249000, 80908008 |
| English |
Ornithine carbamoyltransferase deficiency, OCT-Ornith carbamoyltransf def, OTC-Ornith transcarbamyl defic, Ornith carbamoyltransferas def, Ornithin transcarbamoylase def, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO, ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY, OTC DEFICIENCY, ORNITHINE CARBAMOYLTRANSFERASE DEFIC DIS, ORNITHINE TRANSCARBAMYLASE DEFIC DIS, DEFIC DIS ORNITHINE CARBAMOYLTRANSFERASE, DEFIC DIS ORNITHINE TRANSCARBAMYLASE, ornithine carbamoyltransferase deficiency, ornithine transcarbamylase deficiency, ornithine transcarbamylase deficiency (diagnosis), Deficiency Disease, Ornithine Carbamoyltransferase, Ornithine Carbamoyltransferase Deficiency Disease, Deficiency Disease, Ornithine Transcarbamylase, Ornithine Transcarbamylase Deficiency Disease, Ornithine Transcarbamylase Deficiency, Deficiency, Ornithine Transcarbamylase, Deficiencies, OTC, OTC Deficiencies, Deficiencies, Ornithine Transcarbamylase, Deficiency, OTC, Ornithine Transcarbamylase Deficiencies, OTC Deficiency, Ornithine Carbamoyltransferase Deficiency Disease [Disease/Finding], octd, ornithine carbamoyltransferase deficiency (OCTD), Ornithine Carbamoyltransferase Deficiency, Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To, Deficiency of ornithine carbamoyltransferase (disorder), OCT deficiency, OCTD, Ornithine transcarbamylase deficiency, OCT - Ornithine carbamoyltransferase deficiency, OTC - Ornithine transcarbamylase deficiency, Ornithine transcarbamoylase deficiency, Deficiency of citrulline phosphorylase, Deficiency of ornithine carbamoyltransferase, Deficiency of ornithine transcarbamylase, Ornithine carbamoyltransferase deficiency (disorder), deficiency; ornithine transcarbamylase, ornithine transcarbamylase; deficiency |
| Italian |
Deficit di ornitina transcarbamilasi, Deficit di ornitina carbamil-transferasi, Malattia da carenza di ornitine carbamiltransferasi |
| Dutch |
ornitinecarbamoyltransferasedeficiëntie, ornithine-transcarbamylasedeficiëntie, deficiëntie; ornithinetranscarbamylase, ornithinetranscarbamylase; deficiëntie, ornitinetranscarbamoylasedeficiëntie, Deficiëntie, ornithinecarbamoyltransferase-, Ornithinecarbamoyltransferasedeficiëntie, Ornithinetranscarbamylasedeficiëntie |
| French |
Carence en ornithine carbamoyltransférase, Déficit en ornithine transcarbamylase, Carence en ornithine transcarbamylase, Déficience en ornithine-transcarbamylase, Déficit en OTC, Déficit en ornithine carbamyl transférase, Déficit en ornithine carbamyltransférase |
| Portuguese |
Carência de ornitina carbamoiltransferase, Deficiência de Ornitina Transcarbamilase, Deficiência de OTC, Deficiência em ornitonina transcarmabilase, Deficiência da Ornitina Transcarbamilase, Doença por Deficiência de Ornitina Transcarbamilase, Doença por Deficiência de Ornitina Carbomoiltransferase, Deficiência de ornitina transcarbamoilase, Doença da Deficiência de Ornitina Carbomoiltransferase, Doença da Deficiência de Ornitina Transcarbamilase |
| Swedish |
Ornitinkarbamoyltransferasbristsjukdom
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| Japanese |
ｵﾙﾆﾁﾝﾄﾗﾝｽｶﾙﾊﾞﾐﾗｰｾﾞｹｯｿﾝｼｮｳ, ｵﾙﾆﾁﾝｶﾙﾊﾞﾓｲﾙﾄﾗﾝｽﾌｪﾗｰｾﾞｹｯｿﾝｼｮｳ, OCT欠損症, オルニチンカルバモイルトランスフェラーゼ欠損症, OTC欠損症, オルニチントランスカルバミラーゼ欠損症 |
| Czech |
ornithinkarbamoyltransferasa - nedostatek, ornithintranskarbamylasa - nedostatek, Deficit ornitinkarbamoyltransferázy, Deficit ornitintranskarbamoylázy |
| Finnish |
Ornitiinitranskarbamylaasin puutos
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| Russian |
ORNITIN-TRANSKARBAMILAZY NEDOSTATOCHNOSTI BOLEZN', ORNITIN-KARBAMOILTRANSFERAZY NEDOSTATOCHNOSTI BOLEZN', ОРНИТИН-КАРБАМОИЛТРАНСФЕРАЗЫ НЕДОСТАТОЧНОСТИ БОЛЕЗНЬ, ОРНИТИН-ТРАНСКАРБАМИЛАЗЫ НЕДОСТАТОЧНОСТИ БОЛЕЗНЬ |
| Spanish |
Deficiencia de OTC, Deficiencia de Ornitina Transcarbamilasa, Deficiencia de ornitina transcarbamilasa, deficiencia de citrulina fosforilasa, deficiencia de ornitina carbamoiltransferasa (concepto no activo), deficiencia de ornitina carbamoiltransferasa, deficiencia de ornitina carbamoiltransferasa (trastorno), deficiencia de ornitina transcarbamilasa, Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa, Enfermedad por Deficiencia de Ornitina Transcarbamilasa |
| Polish |
Choroba niedoboru karbamylotransferazy ornitynowej
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| German |
Ornithintranscarbamylase-Mangel, Ornithintranscarbamoylase-Mangel, Ornithincarbamoyltransferase-Mangelkrankheit, Ornithintranscarbamylase-Mangelkrankheit |
| Hungarian |
Ornithin transcarbamylase hiány, Ornithin transcarbamoylase hiány, Ornithin carbamoyltransferase hiány |
| Norwegian |
Ornitinkarbamyoltransferasemangel
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