Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

American Journal of Medical Genetics

Volumn 66, Issue 3, 1996, Pages 311-315

  Ahrens, Mary J ^a,b   Berry, Susan A ^a,b   Whitley, Chester B ^a,b   Markowitz, Dorothy J ^b   Plante, Robert J ^a   Tuchman, Mendel ^a,b,c  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c UNIV OF MINNESOTA HOSP AND CLINIC   (United States)

Author keywords

clinical heterogeneity; hyperammonemia; ornithine transcarbamylase deficiency; ornithine transcarbamylase gene; urea cycle; X linked heterozygosity

Indexed keywords

ALLOPURINOL; ARGININE; CITRULLINE; GLUTAMINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID;

ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERAMMONEMIA; MALE; PEDIGREE; PRIORITY JOURNAL; PROGNOSIS;

ALLOPURINOL; AMINO ACID METABOLISM, INBORN ERRORS; AMMONIA; ARGININE; CITRULLINE; FEMALE; GLUTAMINE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; PEDIGREE;

EID: 0030471581     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961218)66:3<311::AID-AJMG14>3.0.CO;2-P     Document Type: Article

References (9)

1. Batshaw ML, Msall M, Beaudet AL, Trojak J (1986): Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr 108:236-241.
2. Brusilow SW, Horwich AL (1995): Urea cycle enzymes. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Basis of Inherited Disease." New York: McGraw-Hill, pp 1187-1232.
3. Hawks Arn P, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW (1990): Hyperammonemia in women with a mutation at the ornithine carbamyltransferase locus. N Engl J Med 322:1652-1655.
4. 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.
5. McCann MT, Thompson MM, Gueron IC, Tuchman M(1995): Quantification of erotic acid in dried filter paper urine samples by stable isotope dilution. Clin Chem 41:739-743.
6. Ricciuti FC, Gelehrter TD, Rosenberg LE (1976): X-chromosome inactivation in human liver: Confirmation of X-linkage of ornithine transcarbamylase. Am J Hum Genet 28:332-338.
7. Tsai MY, Holzknecht RA, Tuchman M (1993): Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. Hum Genet 91:321-325.
8. 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.
9. Tuchman M, Plante RJ, Garcia-Perez MA, Rubio V (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families. Hum Genet 97:274-276.