Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood

Journal of Nutrition

Volumn 134, Issue 6 SUPPL., 2004, Pages

  Endo, Fumio ^a   Matsuura, Toshinobu ^a   Yanagita, Kaede ^a   Matsuda, Ichiro ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

Author keywords

Carbamyl phosphate synthetase ornithine transcarbamylase; Hyperammonemia; Urea cycle disorders

Indexed keywords

AMINO ACID; AMMONIA; ARGININE; ARGININOSUCCINIC ACID; CARBAMOYL PHOSPHATE SYNTHASE; CITRULLINE; GLUTAMIC ACID; HOMOCITRULLINE; LYSINE; ORNITHINE CARBAMOYLTRANSFERASE; UREA;

AGITATION; AMINO ACID METABOLISM; AMINO ACID TRANSPORT; AMINOACIDURIA; AMMONIA BLOOD LEVEL; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; COMA; CONFERENCE PAPER; CONVULSION; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; HEPATOSPLENOMEGALY; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; INSOMNIA; LIVER FAILURE; LIVER TRANSPLANTATION; LONG TERM CARE; NAUSEA; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; NUTRITIONAL SUPPORT; OSTEOPOROSIS; PARAPLEGIA; PRENATAL DIAGNOSIS; PROGNOSIS; PROTEIN RESTRICTION; RESPIRATORY FAILURE; RETINA DEGENERATION; SEIZURE; STUPOR; SYMPTOMATOLOGY; TREMOR; UREA CYCLE;

EID: 2642513241     PISSN: 00223166     EISSN: None     Source Type: Journal    
DOI: 10.1093/jn/134.6.1605s     Document Type: Conference Paper

References (34)

1. Batshaw, M. L. & Brusilow, S. W. (1980) Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J. Pediatr. 97: 893-900.
2. Brusilow, S. W., Danney, M., Waber, L. J., Batshaw, M., Burton, B., Levitsky, L., Roth, K., McKeethren, C. & Ward, J. (1984) Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis. N. Engl. J. Med. 310: 1630-1634.
3. Whitington, P. F., Alonso, E. M., Boyle, J. T., Molleston, J. P., Rosenthal, P., Emond, J. C. & Millis, J. M. (1998) Liver transplantation for the treatment of urea cycle disorders. J. Inherit. Metab. Dis. 21 (suppl. 1): 112-118.
4. Saudubray, J. M., Touati, G., Delonlay, P., Jouvet, P., Narcy, C., Laurent, J., Rabier, D., Kamoun, P., Jan, D. & Revillon, Y. (1999) Liver transplantation in urea cycle disorders. Eur. J. Pediatr. 158 (suppl. 2): S55-S59.
5. Kiuchi, T., Edamoto, Y., Kaibori, M., Uryuhara, K., Kasahara, M., Uemoto, S., Egawa, H., Inomata, Y. & Tanaka, K. (1999) Auxiliary liver transplantation for urea-cycle enzyme deficiencies: lessons from three cases. Transplant Proc. 31: 528-529.
6. Hoshide, R., Matsuura, T., Haraguchi, Y., Endo, F., Yoshinaga, M. & Matsuda, I. (1993) Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. J. Clin. Invest. 91: 1884-1887.
7. Aoshima, T., Kajita, M., Sekido, Y., Kikuchi, S., Yasuda, I., Saheki, T., Watanabe, K., Shimokata, K. & Niwa, T. (2001) Novel mutations (H337R and 238-362 del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Hum. Hered. 52: 99-101.
8. Finckh, U., Kohlschutter, A., Schafer, H., Sperhake, K., Colombo, J. P. & Gal, A. (1998) Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Hum. Mutat. 12: 206-211.
9. Matsuura, T., Hoshide, R., Setoyama, C., Shimada, K., Hase, Y., Yanagawa, T., Kajita, M. & Matsuda, I. (1993) Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns. Hum. Genet. 92: 49-56.
10. Tuchman, M., McCullough, B. A. & Yudkoff, M. (2001) The molecular basis of ornithine transcarbamylase deficiency. Eur. J. Pediatr. 159 (suppl. 3): S196-S198.
11. Nishiyori, A., Yoshino, M., Kato, H., Matsuura, T., Hoshide, R., Matsuda, I., Kuno, T., Miyazaki, S., Hirose, S., et al. (1997) The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients. Hum. Genet. 99: 171-176.
12. Burlina, A. B., Ogier, H., Korall, H. & Trefz, F. K. (2001) Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients. Mol. Genet. Metab. 72: 351-355.
13. Nagasaka, H., Yorifuji, T., Egawa, H., Kikuta, H., Tanaka, K. & Kobayashi, K. (2001) Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency. J. Pediatr. 138: 432-434.
14. Gao, H. Z., Kobayashi, K., Tabata, A., Tsuge, H., Iijima, M., Yasuda, T., Kalkanoglu, H. S., Dursun, A., Tokatli, A., et al. (2003) Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum. Mutat. 22: 24-34.
15. Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., et al. (1999) The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat. Genet. 22: 159-163.
16. Walker, D. C., McCloskey, D. A., Simard, L. R. & McInnes, R. R. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. Proc. Natl. Acad. Sci. USA 87: 9625-9629.
17. Linnebank, M., Tschiedel, E., Haberle, J., Linnebank, A., Willenbring, H., Kleijer, W. J. & Koch, H. G. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum. Genet. 111: 350-359.
18. Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M. & Matsuda, I. (1990) Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. J. Clin. Invest. 86: 347-350.
19. Uchino, T., Haraguchi, Y., Aparicio, J. M., Mizutani, N., Higashikawa, M., Naitoh, H., Mori, M. & Matsuda, I. (1992) Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. Am. J. Hum. Genet. 51: 1406-1412.
20. Prasad, A. N., Breen, J. C., Ampola, M. G. & Rosman, N. P. (1997) Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J. Child Neurol. 12: 301-309.
21. Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M., Jakobs, C. & Matsuda, I. (1995) Molecular basis of phenotypic variation in patients with argininemia. Hum. Genet. 96: 255-260.
22. Haberle, J., Schmidt, B., Pauli, S., Kreuder, J. G., Plecko, B., Galler, A., Wermuth, B., Harms, E. & Koch, H. G. (2003) Mutation analysis in patients with N-acetylglutamate synthase deficiency. Hum. Mutat. 21: 593-597.
23. Caldovic, L., Morizono, H., Panglao, M. G., Cheng, S. F., Packman, S. & Tuchman, M. (2003) Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum. Genet. 112: 364-368.
24. Guffon, N., Vianey-Saban, C., Bourgeois, J., Rabier, D., Colombo, J. P. & Guibaud, P. (1995) A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. J. Inherit. Metab. Dis. 18: 61-65.
25. Borsani, G., Bassi, M. T., Sperandeo, M. P., De Grandi, A., Buoninconti, A., Riboni, M., Manzoni, M., Incerti, B., Pepe, A., et al. (1999) SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat. Genet. 21: 297-301.
26. Torrents, D., Mykkanen, J., Pineda, M., Feliubadalo, L., Estevez, R., de Cid, R., Sanjurjo, P., Zorzano, A., Nunes, V., et al. (1999) Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat. Genet. 21: 293-296.
27. Sperandeo, M. P., Bassi, M. T., Riboni, M., Parenti, G., Buoninconti, A., Manzoni, M., Incerti, B., Larocca, M. R., Di Rocco, M., et al. (2000) Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am. J. Hum. Genet. 66: 92-99.
28. Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C. A., Almashanu, S., Steel, G., Casey, R., Lambert, M., et al. (1999) Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat. Genet. 22: 151-158.
29. Kobayashi, K., Bang Lu, Y., Xian Li, M., Nishi, I., Hsiao, K. J., Choeh, K., Yang, Y., Hwu, W. L., Reichardt, J., et al. (2003) Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. Mol. Genet. Metab. 80: 356-359.
30. Saheki, T. & Kobayashi, K. (2002) Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J. Hum. Genet. 47: 333-341.
31. Tsuboi, Y., Hori, T., Matsumoto, S., Takahashi, M. & Yamada, T. (1999) Liver transplantation in type II citrullinemia (in Japanese). Rinsho Shinkeigaku. 39: 1049-1053.
32. Msall, M., Batshaw, M. L., Suss, R., Brusilow, S. W. & Mellits, E. D. (1984) Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N. Engl. J. Med. 310: 1500-1505.
33. Uchino, T., Endo, F. & Matsuda, I. (1998) Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J. Inherit. Metab. Dis. 21 (suppl. 1): 151-159.
34. Bachmann, C. (2003) Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur. J. Pediatr. 162 (suppl. 1): S29-S33.