Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype

American Journal of Medical Genetics

Volumn 93, Issue 4, 2000, Pages 313-319

  McCullough, Beth A ^a   Yudkoff, Marc ^b   Batshaw, Mark L ^c   Wilson, James M ^a   Raper, Steven E ^a   Tuchman, Mendel ^c,d  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Enzyme; Germinal mutation; Hyperammonemia; Inborn error of metabolism; Ornithine carbamoyl transferase; Urea cycle

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; GENE MAPPING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; AMMONIA; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LIVER; MALE; MIDDLE AGED; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; PHENOTYPE; UREA;

EID: 0034648504     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M     Document Type: Article

References (33)

1. Allewell NM, Shi D, Morizono H, Tuchman M. 1999. Molecular recognition by ornithine and aspartate transcarbamylases. Acc Chem Res 32:885-894.
2. Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. 1997. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical, and DNA analyses in a four-generation family. Am J Med Genet 68:236-239.
3. Bonaïti-Pellié C, Pelet A, Ogier H, Nelson JR, Lagilliére C, Berthelot J, Saudubray JM, Munnich A. 1990. A probable sex difference in mutation rates in ornithine transcarbamylase deficiency. Hum Genet 84: 163-166.
4. Brusilow SW, Horwich AL. 1995. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 1187-1232.
5. Cavard C, Cathelineau L, Rabier D, Briand P. 1988. Immunochemical analysis of 19 ornithine transcarbamylase deficiencies. Enzyme 40:51-56.
6. El-Maarri O, Olek A, Balaban B, Montag M, van der Ven H, Urman B, Olek K, Caglayan SH, Walter J, Oldenburg J. 1998. Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution. Am J Hum Genet 63:1001-1008.
7. Hasegawa T, Tzakis AG, Todo S, Reyes J, Nour B, Finegold DN, Starzl TE. 1995. Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. J Pediatr Surg 30: 863-865.
8. Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I. 1988. Structure of the human ornithine transcarbamylase gene. J Biochem 103:302-308.
9. Hodges PE, Rosenberg LE. 1989. The spfASH mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing. Proc Natl Acad Sci USA 86:4142-4146.
10. Horwich AL, Fenton WA, Williams KR, Kalousek F, Kraus JP, Doolittle RF, Konigsberg W Rosenberg LE. 1984. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 224:1068-1074.
11. Horwich AL, Kalousek F, Fenton WA, Pollock RA, Rosenberg LE. 1986. Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide. Cell 44:451-459.
12. Jackson MJ, Beaudet AL, O'Brien WE. 1986. Mammalian urea cycle enzymes. Annu Rev Genet 20:431-464.
13. Kalonsek F, Francois B, Rosenberg LE. 1978. Isolation and characterization of ornithine transcarbamylase from normal human liver. J Biol Chem 253:3939-3944.
14. Ketterling RP, Vielhaber E, Bottema CD, Schaid DJ, Cohen MP, Sexauer CL, Sommer SS. 1993. Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet 52:152-156.
15. Lee JT, Nussbaum RL. 1989. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. J Clin Invest 84:1762-1766.
16. Maestri NE, Clissold D, Brusilow SW. 1999. Neonatal-onset ornithine transcarbamylase deficiency: a retrospective analysis. J Pediatr 134: 268-272.
17. Matsuda I, Matsuura T, Nishiyori A, Komaki S, Hoshide R, Matsumoto T, Funakoshi M, Kiwaki K, Endo F, Hata A, Shimadzu M, Yoshino M. 1996. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavorable prognosis to an asymptomatic older adult. J Med Genet 33:645-648.
18. Matsuura T, Hoshide R, Setoyama C, Komaki S, Kiwaki K, Endo F, Nishikawa S, Matsuda I. 1994. Expression of four mutant human ornithine transcarbamylase genes in cultured Cos1 cells relates to clinical phenotypes. Hum Genet 93:129-134.
19. Monk M, Boubelik M, Lehnert S. 1987. Temporal and regional changes in DNA methylation in the embryonic, extraembryonic, and germ cell lineages during mouse embryo development. Development 99:371-382.
20. Morizono H, Listrom CD, Rajagopal BS, Aoyagi M, McCann MT, Allewell NM, Tuchman M. 1997. Late-onset ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes. Hum Mol Genet 6:963-968.
21. Nishiyori A, Yoshino M, Kato H, Matsuura T, Hoshide R, Matsuda I, Kuno T, Miyazaki S, Hirose S, Kuromaru R, Mori M. 1997. The R40H mutation in a late-onset type of human ornithine transcarbamylase deficiency in male patients. Hum Genet 99:171-176.
22. Shi D, Morizono H, Ha Y, Aoyagi M, Tuchman M, Allewell NM. 1998. 1.85-Å resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine: catalytic mechanism and correlation with inherited deficiency J Biol Chem 273:34247-34254.
23. Tuchman M. 1993. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 2:174-178.
24. Tuchman M, Holzknecht RA, Gueron AB, Berry SA, Tsai MY. 1992. Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. Pediatr Res 32:600-604.
25. Tuchman M, Matsuda I, Munnich A, Malcolm S, Strautnieks S, Briede T. 1995b. Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. Am J Med Genet 55:67-70.
26. Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. 1998. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inher Metab Dis 21(Suppl 1):40-58.
27. Tuchman M, Morizono H, Reish O, Yuan X, Allewell NM. 1995a. The molecular basis of ornithine transcarbamylase deficiency: modeling the human enzyme and the effects of mutations. J Med Genet 32:680-688.
28. Tuchman M, Tsai MY, Holzknecht RA, Brusilow SW. 1989. Carbamylphosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver tissue measured by radiochromatography and correlated with outcome. Pediatr Res 26:77-82.
29. Uchino T, Endo F, Matsuda I. 1998. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inher Metab Dis 21(Suppl):151-159.
30. Wu CI, Maeda N. 1987. Inequality in mutation rates of the two strands of DNA. Nature 327:169-170.
31. Yoshino M, Nishiyori J, Yamashita F, Kumashiro R, Abe H, Tanikawa K, Ohno T, Nakao K, Kaku N, Fukushima H, Kubota I. 1990. Ornithine transcarbamylase deficiency in male adolescence and adulthood. Enzyme 43:160-168.
32. Yudkoff M, Daikhin Y, Nissim I, Jawad A, Wilson J, Batshaw M. 1996. In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. J Clin Invest 98:2167-2173.
33. Zhang W, Holzknecht RA, Tuchman M. 1990. Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in CRM negative carbamyl phosphate synthetase I deficiency. Clin Invest Med 13:183-188.