[Late-onset type ornitine transcarbamirase deficiency (OTCD) with fulminant onset following a fatal prognosis].
A 16-year-old man was admitted to our hospital with nausea, general fatigue, and consciousness disturbance along with extreme hyperammoniemia eight days after the onset of symptoms. Familial history and the high concentration of orotic acid in urine lead us to a diagnosis of OTCD. We immediately initiated intensive treatment such as continuous hemodiafiltration and sodium benzoate administration; however, the patient died twelve days after admission. Since OTCD is not so rare and can be found in all ages, it should be considered fundamental for evaluation of hyperammoniemia. This case suggested that for a better prognosis of OTCD patients it is very important to prevent such an onset, and to make an as early as possible diagnosis and start to treatment.
Yasutake
Tsutomu
T
Department of Internal Medicine, Saga Medical School.
Nagatomo
Daisuke
D
Mizuta
Toshihiko
T
Eguchi
Yuichiro
Y
Kumagai
Takanori
T
Ario
Keisuke
K
Ozaki
Iwata
I
Kuno
Tateo
T
Fujimoto
Kazuma
K
D000293:Adolescent; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis