II. Epidemiology

  1. Most common urea cycle disorder
  2. Incidence: 1:70,000

III. Pathophysiology

  1. X-Linked disorder

IV. Signs: Boys (severe signs due to single X-Chromosome)

  1. Refractory Emesis
  2. Hyperammonemia
  3. Progressive encephalopathy

V. Signs: Girl (mild signs due to Heterozygous)

  1. Mild hyperammonemia
  2. May present with patient avoiding protein in general

VI. Management

  1. Acute
    1. Sodium benzoate
    2. Sodium phenylacetate
    3. Arginine
    4. Dialysis
  2. Chronic: Maintenance
    1. Low protein diet with essential Amino Acid Supplement

VII. Complications

  1. Hepatic failure

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Ontology: Ornithine carbamoyltransferase deficiency (C0268542)

Definition (MSH) 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)
Definition (NCI) 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.
Concepts Disease or Syndrome (T047)
MSH D020163
ICD10 E72.4
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
Japanese オルニチントランスカルバミラーゼケッソンショウ, オルニチンカルバモイルトランスフェラーゼケッソンショウ, 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
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
German Ornithintranscarbamylase-Mangel, Ornithintranscarbamoylase-Mangel, Ornithincarbamoyltransferase-Mangelkrankheit, Ornithintranscarbamylase-Mangelkrankheit
Hungarian Ornithin transcarbamylase hiány, Ornithin transcarbamoylase hiány, Ornithin carbamoyltransferase hiány
Norwegian Ornitinkarbamyoltransferasemangel

Ontology: Hyperornithinemia (C0599035)

Definition (CSP) excess of ornithine in the plasma, such as occurs in the genetic disorders gyrate atrophy of choroid and retina and hyperornithinemia-hyperamonemia-homocitrullinuria syndrome.
Concepts Disease or Syndrome (T047)
MSH D015799
SnomedCT 276426004, 190716009, 124292005, 193471005, 33985005, 87126009
English OAT-Ornth ox-acd amno trns def, Ornith ketoacid transamin def, Ornith oxo-acid aminotrans def, Ornith oxoacidaminotrans def, Ornithine oxoacidaminotransferase deficiency, Hyperornithinemia, Ornithine oxo-acid aminotransferase deficiency, ornithine aminotransferase deficiency, hyperornithinemia (diagnosis), hyperornithinemia, ornithinemia, Deficiency, Ornithine Aminotransferase, Ornithine Aminotransferase Deficiency, Ornithine Delta Aminotransferase Deficiency, Deficiency, Ornithine-Delta-Aminotransferase, OKT Deficiency, Ornithine-Delta-Aminotransferase Deficiency, OAT Deficiency, Ornithine Ketoacid Aminotransferase Deficiency, Deficiency, OAT, Ornithine Keto Acid Aminotransferase Deficiency, Deficiency, OKT, Deficiency of ornithine-oxo-acid aminotransferase (disorder), OAT deficiency, OKT deficiency, Ornithine ketoacid transaminase deficiency, Ornithine-delta-aminotransferase deficiency, Ornithine-oxo-acid amino acid transferase deficiency, Hyperornithinaemia, OAT - Ornithine oxo-acid aminotransferase deficiency, Hyperornithinemia (disorder), Ornithine aminotransferase deficiency, Ornithine oxo-acid aminotransferase deficiency (disorder), Hyperornithinemia, NOS, Hyperornithinaemia, NOS, Ornithine oxo-acid aminotransferase deficiency [Ambiguous], Deficiency of ornithine-oxo-acid aminotransferase
Spanish deficiencia de ornitina - oxo - ácido aminotransferasa (trastorno), deficiencia de ornitina cetoácido transaminasa, deficiencia de ornitina - delta - aminotransferasa, deficiencia de ornitina - oxo - ácido - aminoácido transferasa, deficiencia de ornitina - oxo - ácido aminotransferasa, deficiencia de ornitina aminotransferasa (trastorno), deficiencia de ornitina aminotransferasa, deficiencia de ornitina oxo-ácido aminotransferasa, deficiencia de transaminasa cetoácida de ornitina, hiperornitinemia (trastorno), hiperornitinemia