Liver transplantation prevents progressive neurological impairment in argininemia

JIMD Reports

Volumn 11, Issue , 2013, Pages 25-30

  Silva, E Santos ^a   Cardoso, M L ^b   Vilarinho, L ^c   Medina, M ^d   Barbot, C ^d   Martins, E ^a  

^a Centro Hospitalar Universitario do Porto   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

^d HOSPITAL MARIA PIA   (Portugal)

Author keywords

Neonatal cholestasis; Orotic acid; Spastic paraparesis; Urea cycle; Urea cycle disorder

Indexed keywords

EID: 84926639867     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_218     Document Type: Chapter

References (11)

1. Braga AC, Vilarinho L, Ferreira E, Rocha H (1997) Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. J Pediatr Gastroenterol Nutr 24:218–221
2. Brusilow SW, Horwich AL (2005) Urea cycle enzymes. In: Scriver CR et al (eds) Metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, Chap 85
3. Cardoso ML, Martins E, Vasconcelos R et al (1999) Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. Hum Mutation 14:355–356
4. De Deyn PP, Vanholder R, Eloot S, Glorieux G (2009) Guanidino compounds as uremic (neuro)toxins. Semin Dial 22(4):340–5
5. Hiramatzu M (2003) A role for guanidine compounds in the brain. Mol Cell Biochem 244:57–62
6. Knickmeyer RC, Gouttard S, Kang C, Evans D, Wilber K, Smith JK et al (2008) A structural MRI study of human brain development from birth to 2 years. Journal of Neuroscience 28(47): 12176–12182
7. Marescau B, De Deyn PP, Lowenthal A, Qureshi IA, Antonozzi I, Bachmann C, Cederbaum SD, Cerone R, Chamoles N, Colombo JP et al (1990) Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy. Pediatr Res 27(3): 297–303
8. Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L (2011) Neonatal cholestasis: an uncommon presentation of hyperargininemia. J Inherit Metab Dis. 2011; DOI 10.1007/s10545-010-9263-7.
9. Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A (1987) Guanidino compounds in hyperargininemia. Tohoku J Exp Med 153:197–205
10. Santos Silva E, Martins E, Cardoso ML, Barbot C, Vilarinho L, Medina M (2001) Liver transplantation in a case of argininemia. J inherit Metab Dis 24:885–887
11. Scaglia M, Lee B (2006) Clinical, biochemical and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet 142C:113–120