title: Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.
abstract: The late-onset type of ornithine transcarbamylase (OTC) deficiency is almost asymptomatic before an abrupt onset of metabolic crisis in adolescence. This study focused on coagulopathy in OTC deficiency. We collected laboratory data regarding coagulation from OTC-deficient patients in Kyushu University Hospital in Japan or from cases reported from previous articles. Five patients with late-onset OTC deficiency, admitted to Kyushu University Hospital at the first metabolic attack or who presented at the outpatient clinic in the hospital, were analyzed, and 3 additional cases of OTC deficiency with coagulopathy in previous articles were included. As a result, the blood ammonia levels in these patients were remarkably high at the time of the metabolic attack, and prothrombin times were far below the normal level. The prothrombin times remained significantly abnormal on remission, despite almost normal levels of blood ammonia, serum aspartate aminotransferase, and alanine aminotransferase. Coagulation abnormality is a previously unidentified complication of OTC deficiency in remission state. This information will aid in the identification of patients with OTC deficiency before a lethal metabolic crisis occurs during adolescence.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. k-ihara@pediatr.med.kyushu-u.ac.jp
authors.forename: Kenji
authors.initials: K
authors.lastname: Ihara
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshino
authors.forename: Takayuki
authors.initials: T
authors.lastname: Hoshina
authors.forename: Nawomi
authors.initials: N
authors.lastname: Harada
authors.forename: Kanako
authors.initials: K
authors.lastname: Kojima-Ishii
authors.forename: Mika
authors.initials: M
authors.lastname: Makimura
authors.forename: Yuki
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D001778:Blood Coagulation Disorders / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology; D002648:Child; D006801:Humans; D007223:Infant; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood / Q000150:complications* / Q000175:diagnosis*; D012074:Remission Induction; D055815:Young Adult