[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.
Department of Internal Medicine, Saga Medical School.
Tsutomu
T
Yasutake
Daisuke
D
Nagatomo
Toshihiko
T
Mizuta
Yuichiro
Y
Eguchi
Takanori
T
Kumagai
Keisuke
K
Ario
Iwata
I
Ozaki
Tateo
T
Kuno
Kazuma
K
Fujimoto
D000293:Adolescent; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis