Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: Report of a case

Surgery Today

Volumn 35, Issue 12, 2005, Pages 1087-1091

  Kawagishi, Naoki ^a   Satoh, Kazushige ^a   Enomoto, Yoshitaka ^a   Akamatsu, Yorihiro ^a   Sekiguchi, Satoshi ^a   Satoh, Akira ^a   Fujimori, Keisei ^a   Takasago, Yuhei ^b   Ito, Tetsuya ^c   Ohura, Toshihiro ^a   Satomi, Susumu ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Morioka Red Cross Hospital   (Japan)

^c NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

Author keywords

Brain atrophy; Living donor liver transplantation; Magnetic resonance imaging; Ornithine transcarbamylase deficiency; Quality of life

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; COMA; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; FOLLOW UP; FRONTAL LOBE; HEPATIC ENCEPHALOPATHY; HUMAN; HYPERAMMONEMIA; INTELLIGENCE QUOTIENT; LETHARGY; LIVER TRANSPLANTATION; LIVING DONOR; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATIENT MONITORING; POSTOPERATIVE PERIOD; PREOPERATIVE EVALUATION; QUALITY OF LIFE; WHITE MATTER;

ATROPHY; BRAIN; CHILD; FEMALE; HUMANS; LIVER TRANSPLANTATION; LIVING DONORS; MAGNETIC RESONANCE IMAGING; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; QUALITY OF LIFE;

EID: 28844454272     PISSN: 09411291     EISSN: 14362813     Source Type: Journal    
DOI: 10.1007/s00595-005-3071-y     Document Type: Article

References (15)

1. N Nagata I Matsuda K Oyanagi 1991 Estimated frequency of urea cycle enzymopathies in Japan Am J Med Genet 39 228 9
2. NE Maestri SW Brusilow DB Clissold SS Bassett 1996 Long-term treatment of girls with ornithine transcarbamylase deficiency N Engl J Med 335 855 9
3. H Nagasaka T Yorifuji H Egawa H Kikuta K Tanaka K Kobayashi 2001 Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency J Pediatr 138 432 4
4. S Ohba K Kidouchi T Katoh T Kibe M Kobayashi Y Wada 1991 Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching J Chromatogr 568 325 32
5. S Sumi T Matsuura K Kidouchi H Togari M Kubota O Kitou 2000 Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil Int J Mol Med 6 177 80
6. I Sebesta LD Fairbanks PM Davies HA Simmonds JV Leonard 1994 The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk Clin Chim Acta 14 224 45 54
7. The Japanese Liver Transplantion Society 2003 Liver transplantation in Japan - registry by the Japanese liver transplantation society (in Japanese with English abstract) Isyoku (Jpn J Transplantation) 38 401 8
8. T Uchino F Endo I Matsuda 1998 Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan J Inherit Metab Dis 21 151 9
9. F Scaglia Q Zheng WE O'Brien J Henry J Rosenberger P Reeds 2002 An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency Pediatrics 109 105 2
10. PC Rowe SL Newman SW Brusilow 1986 Natural history of symptomatic partial ornithine transcarbamylase deficiency N Engl J Med 314 541 7
11. I Matsuda S Tanase 1997 The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency AM J Med Genet 71 378 83
12. AB Burlina V Ferrari C Dionisi-Vici A Bordugo F Zacchello M Tuchman 1992 Allopurinol Challenge test in children J Inherit Metab Dis 15 707 12
13. E Riudor JA Arranz M Rodes V Rubio M Sentis AB Burlina 2000 Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants J Inherit Metab Dis 23 662 8
14. SW Brusilow AL Horwich 2001 Urea cycle enzymes CR Scriver AL Beaud WS Sly D Valle The metabolic and molecular bases of inherited disease 8th ed. McGraw-Hill New York 1909 63
15. J Takanashi A Kurihara M Tomita M Kanazawa S Yamamoto F Morita 2002 Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency Neurology 59 210 4