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choroba z deficitu ornitíntranskarbamoylázy
Record number d020163 Date 08.07.2025 Type M - MESH Topical term choroba z deficitu ornitíntranskarbamoylázy Other term English (Pseudonym) Ornithine Transcarbamylase Deficiency
English (Pseudonym) Ornithine Transcarbamylase Deficiency Disease
English (Pseudonym) OTC Deficiency
Slovak (Pseudonym) choroba z nedostatku ornitíntranskarbamoylázy
Slovak (Pseudonym) choroba z deficitu ornitínkarbamoyltransferázy
Slovak (Pseudonym) deficit OTC
Slovak (Pseudonym) deficiencia OTC
Slovak (Pseudonym) deficit ornitíntranskarbamoylázy
Slovak (Pseudonym) choroba z deficitu ornitíntranskarbamylázy
Slovak (Pseudonym) deficit ornitíntranskarbamylázy
Slovak (Pseudonym) hyperamonémia typu II
Slovak (Pseudonym) deficit ornitínkarbamoyltransferázy
Slovak (Pseudonym) hyperamonémia v dôsledku deficitu ornitíntranskarbamylázy
See also (Later heading) ornitíntranskarbamoyláza
(Skutočné meno) ornitíntranskarbamoyláza
UDC C10.228.140.163.100.937.750C16.320.322.828C16.320.565.100.940.750C16.320.565.189.937.750C18.452.132.100.937.500C18.452.648.100.940.500C18.452.648.189.937.500 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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Number of the records: 1