Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis

Journal of Pediatric Gastroenterology and Nutrition

Volumn 24, Issue 2, 1997, Pages 218-221

  Braga, Ana Cristina ^a,d   Vilarinho, L ^b   Ferreira, E ^c   Rocha, H ^a  

^a Maria Pia Hospital   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^d NONE   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; INFANT; LIVER BIOPSY; LIVER CIRRHOSIS; NEWBORN JAUNDICE; PRIORITY JOURNAL; UREA CYCLE;

AMINO ACID METABOLISM, INBORN ERRORS; ARGINASE; ARGININE; BIOPSY; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; JAUNDICE, NEONATAL; LIVER; LIVER CIRRHOSIS;

EID: 0030900567     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-199702000-00018     Document Type: Article

References (17)

1. Brusilow SW, Horwich AL. Urea Cycle Enzymes. In: Saiver CR, Beaudet A, Sly W, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989: 629-63.
2. Walser M. Urea cycle disorders and other hereditary hyperammonemic syndromes. In: Standbury JB, Wyngaarden JB, Frederickson DS, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1983:402-38.
3. Peralta-Serrano A. Argininuria, convulsiones y oligofrenia: un nuevo error innato del metabolismo? Rev Clin Esp 1965; 97:176-84.
4. Terheggen HG, Schwenk A, Lowenthal A, Van Sande M, Colombo JP. Argininaemia with arginase deficiency. Lancet 1969;2:748-9.
5. Bachmann C. Urea cycle disorders. In: Fernandas J, Saudubray JM, Tade K. Inborn metabolic diseases diagnosis and treatment. New York: Springer-Verlag, 1990:211-28.
6. Cederbaum SD, Shaw KNF, Spector EB, Verity MA, Snodgrass PJ, Sugarman GI. Hyperargininemia with arginase deficiency. Pediatr Res 1979;13:827-33.
7. Jordá A, Rubio V, Portolés M, Vilas J, García-Piño J. A new case of arginase deficiency in a Spanish male. J Inher Metab Dis 1986;9:393-7.
8. Cederbaum SD, Shaw KNF, Valente M. Hyperargininemia. J Pediatr 1977;90:569-73.
9. Scheuerle AE, McVie R, Beaudet AL, Shapira SK. Arginase deficiency presenting as cerebral palsy. Pediatrics 1993;91: 995-6.
10. Ampola MG. Nutrition in inborn errors of amino acid metabolism. In: Grand RJ, Sutphen JL, Dietz WH. Pediatric nutrition theory and practice. Boston: Butterworth, 1987.
11. Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A. Guanidino compounds in hyperargininemia. Tohoku J Exp Med 1987;153:197-205.
12. Snyderman SE, Sansaricq C, Chen WJ, Norton PM, Phansalkar SV. Argininemia. J Pediatr 1977;90:563-8.
13. Lambert MA, Marescau B, Desjardins M, et al. Hyperargininemia: Intellectual and motor improvement related to changes in biochemical data. J Pediatr 1991;118:420-4.
14. Snyderman SE, Sansaricq C, Norton PM, Goldstein F. Argininemia treated from birth. J Pediatr 1979;95:61-3.
15. Grody W, Klein D, Dodson AE, et al. Molecular genetic study of human arginase deficiency. Am J Hum Genet 1992; 50:1281-90.
16. Vilarinho L, Senra V, Vilarinho A, et al. A new case of argininaemia without spastic diplegia in a Portuguese male. J Inher Metab Dis 1990;13:751-2.
17. Labrecque DR, Latham PS, Biely CA, Hsia YE, Klatskin G. Heritable urea cycle enzyme deficiency - liver disease in 16 patients. J Pediatr 1979;94:580.