Pediatr. praxi. 2016;17(1):52-55 | DOI: 10.36290/ped.2016.011

Late onset of inherited urea cycle disorder - ornithine transcarbamoylase deficiency

MUDr.Jan Papež¹, doc.MUDr.Tomáš Honzík, Ph.D.², MUDr.RNDr.Pavel Ješina, Ph.D.³, MUDr.Petr Jabandžiev¹, MUDr.Jiří Štarha, Ph.D.¹, doc.MUDr.Dagmar Procházková, Ph.D.¹, prof.MUDr.Zdeněk Doležel, CSc.¹

¹ Pediatrická klinika FN Brno a LF MU Brno

² Klinika dětského a dorostového lékařství VFN a 1. LF UK Praha

³ Ústav dědičných metabolických poruch VFN a 1. LF UK Praha

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.

Keywords: inherited metabolic disorder, ornithine transcarbamylase, urea cycle disorder, hyperammonemia, late onset form

Published: February 1, 2016  Show citation