title: Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency.
abstract: There are no objective and concrete guidelines for the management of Ornithine transcarbamylase deficiency (OTCD). Based on previous findings, we hypothesized that patients with OTCD have a low Ornithine transcarbamylase (OTC) activity in the liver, and therefore it would be better to determine the appropriate indications and optimal timing for liver transplantation (LT) based on the OTC activity. However, few data have so far been accumulated on the OTC activity in cases that are indicated for LT. The purpose of the present study was to clarify the OTC activity in cases that were indicated for LT. This study involved thirteen children with OTCD (8 males and 5 females) who underwent LT, and two females with OTCD who did not require LT. The OTC activity of the neonatal onset type ranged from 0% to 7.2%, while that of the late onset type who underwent LT ranged from 4.4% to 18.7%. The OTC activity of the late onset type which did not require LT was 33-38% based on a preoperative needle liver biopsy. Some late onset patients that underwent LT, showed an activity that was as low as that observed in the neonatal onset cases. This is the first report to show the results of measuring the OTC activity for serial OTCD cases indicated for LT. OTC activity might be an indicator to determine the indications for and the timing of LT in the late onset type, however, further investigations are necessary.
authors.affiliation: Department of Transplant Surgery, Jichi Medical University, Shimotsuke city, Tochigi, Japan. wakiya@jichi.ac.jp
authors.forename: Taiichi
authors.initials: T
authors.lastname: Wakiya
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Sanada
authors.forename: Taizen
authors.initials: T
authors.lastname: Urahashi
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Ihara
authors.forename: Naoya
authors.initials: N
authors.lastname: Yamada
authors.forename: Noriki
authors.initials: N
authors.lastname: Okada
authors.forename: Kentaro
authors.initials: K
authors.lastname: Ushijima
authors.forename: Shinya
authors.initials: S
authors.lastname: Otomo
authors.forename: Koichi
authors.initials: K
authors.lastname: Sakamoto
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.forename: Masaki
authors.initials: M
authors.lastname: Takayanagi
authors.forename: Kenichi
authors.initials: K
authors.lastname: Hakamada
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Yasuda
authors.forename: Koichi
authors.initials: K
authors.lastname: Mizuta
mesh_terms: D000328:Adult; D002675:Child, Preschool; D057075:Enzyme Assays; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000150:complications; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology* / Q000378:metabolism; D016031:Liver Transplantation; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000201:enzymology* / Q000601:surgery*
chemical_list: D009954:Ornithine Carbamoyltransferase