Publication details

Pozdní manifestace dědičné poruchy cyklu močoviny - deficit ornitintranskarbamoylázy

Title in English Late onset of inherited urea cycle disorder - ornithine transcarbamoylasa deficiency
Authors

PAPEŽ Jan HONZÍK Tomáš JEŠINA Pavel JABANDŽIEV Petr ŠTARHA Jiří PROCHÁZKOVÁ Dagmar DOLEŽEL Zdeněk

Year of publication 2016
Type Article in Periodical
Magazine / Source Pediatrie pro praxi
MU Faculty or unit

Faculty of Medicine

Citation
Field Paediatry
Keywords inherited metabolic disorder; ornithine transcarbamylase; urea cycle disorder; hyperammonemia; late onset form
Description Ornithine transcarbamylase deficiency (OTCD) is the most frequent inherited urea cycle disorder. This inherited metabolic disorder (IMD) has gonosomal recessive mode of inheritance and results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyses the conversion of ornithine and carbamoyl phosphate to citruline. The cumulation of toxic ammonia and other metabolites are the main cause of the earlier or later clinical manifestation of the disease. The authors present a case report of a thirteen-month-old boy who was taken to hospital due to apathy, overall hypotonia and hyperammonemia. Subsequent metabolic investigation showed the ornithine transcarbamylase deficiency that was confirmed at molecular genetic level.

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