Types and Causes of Citrullinemia Type I, Type II, Symptoms of Citrullinemia Type I, Type II, Diagnosis of Citrullinemia, Clinical Evaluation of Citrullinemia and Treatment of Cutrullinemia
Abstract
Citrullinemia is a rare genetic disorder that affects the metabolism of the amino acid arginine. It is manifested by the collection of citrulline, a toxic substance, in the blood and tissues due to the deficiency or malfunctioning of an enzyme called argininosuccinate synthetase. This article gives an information about the understanding of citrullinemia, along with its causes, symptoms, diagnosis, treatment, and ongoing research efforts.
Full Text:
PDFReferences
Albayram S, Murphy KJ, Gailloud P, Moghekar A, Brunberg JA. CT findings in
the infantile form of citrullinemia. AJNR Am J Neuroradiol. 2002;23:334–6.
[ PMC free article ] [ PubMed ]
• • Ames EG, Powell C, Engen RM, Weaver DJ Jr, Mansuri A, Rheault MN,
Sanderson K, Lichter-Konecki U, Daga A, Burrage LC, Ahmad A, Wenderfer SE,
Luckritz KE. Multi-site retrospective review of outcomes in renal replacement
therapy for neonates with inborn errors of metabolism. J Pediatr.
;246:116–122.e1. [ PMC free article ] [ PubMed ]
• • Ando T, Fuchinoue S, Shiraga H, Ito K, Shimoe T, Wada N, Kobayashi K,
Saeki T, Teraoka S. Living-related liver transplantation for citrullinemia:
different features and clinical problems between classical types (CTLN1) and
adult-onset type (CTLN2) citrullinemia. Japan J Transplant. 2003;38:143–7.
• • Bachmann C. Outcome and survival of 88 patients with urea cycle
disorders: a retrospective evaluation. Eur J Pediatr. 2003;162:410–6.
[ PubMed ]
• • Batshaw ML, MacArthur RB, Tuchman M. Alternative pathway therapy for
urea cycle disorders: twenty years later. J Pediatr. 2001;138:S46–S54.
[ PubMed ]
• • Batshaw ML, Tuchman M, Summar M, Seminara J, et al. A longitudinal
study of urea cycle disorders. Mol Genet Metab. 2014;113:127–30. [ PMC free
article ] [ PubMed ]
• • Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders:
brain MRI and neurological outcome. Pediatr Radiol. 2012;42:455–62. [ PubMed ]
• • Bourdeaux C, Darwish A, Jamart J, Tri TT, Janssen M, Lerut J, Otte JB,
Sokal E, de Ville de Goyet J, Reding R. Living-related versus deceased donor
pediatric liver transplantation: a multivariate analysis of technical and
immunological complications in 235 recipients. Am J Transplant. 2007;7:440–7.
[ PubMed ]
• • Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kölker S, Harting
I. Extrastriatal changes in patients with late-onset glutaric aciduria type I
highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis.
;12:77. [ PMC free article ] [ PubMed ]
• • Brunetti-Pierri N, Lamance KM, Lewis RA, Craigen WJ. 30-year follow-up
of a patient with classic citrullinemia. Mol Genet Metab. 2012;106:248–50.
[ PubMed ]
• • Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet
AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic &
Molecular Bases of Inherited Diseases. Chap 85. 8 ed. 2001.
• • Diez-Fernandez C, Rufenacht V, Haberle J. Mutations in the human
argininosuccinate synthetase (ASS1) gene, impact on patients, common changes,
and structural considerations. Hum Mutat. 2017;38:471–84. [ PubMed ]
• • Engel K, Höhne W, Häberle J. Mutations and polymorphisms in the human
argininosuccinate synthetase (ASS1) gene. Hum Mutat. 2009;30:300–7. [ PubMed ]
• • Enns GM, O’Brien WE, Keiko K, Shinzawa H, Pellgrino JE. Postpartum
"psychosis" in mild argininosuccinate synthetase deficiency. 2005;105:1244-6.
[ PubMed ]
• • Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A. Transient
fulminant liver failure as an initial presentation in citrullinemia type I.
Mol Genet Metab. 2011;102:413–7. [ PubMed ]
• • Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu
HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J,
Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M,
Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P,
Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N,
Nakagawa S, Saheki T. Identification of 16 novel mutations in the
argininosuccinate synthetase gene and genotype-phenotype correlation in 38
classical citrullinemia patients. Hum Mutat. 2003;22:24–34. [ PubMed ]
• • Gunz AC, Choong K, Potter M, Miller E. Magnetic resonance imaging
findings and neurodevelopmental outcomes in neonates with urea-cycle
disorders. Int Med Case Rep J. 2013;6:41–8. [ PMC free article ] [ PubMed ]
• • Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M,
Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V,
Lindner M, Rubio V, Dionisi-Vici C. Suggested guidelines for the diagnosis and
management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. [ PMC free
article ] [ PubMed ]
• • Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M,
Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G,
Rubio V, Huemer M, Dionisi-Vici C. Suggested guidelines for the diagnosis and
management of urea cycle disorders: first revision. J Inherit Metab Dis.
;42:1192–230. [ PubMed ]
• • Häberle J, Meli C, Parini R, Rigoldi M, Vilaseca M. Severe first
manifestation of citrullinemia type I in the postpartum period. Mol Genet
Metab. 2009;98:1–2.
• • Häberle J, Pauli S, Linnebank M, Kleijer WJ, Bakker HD, Wanders RJ,
Harms E, Koch HG. Structure of the human argininosuccinate synthetase gene and
an improved system for molecular diagnostics in patients with classical and
mild citrullinemia. Hum Genet. 2002;110:327–33. [ PubMed ]
• • Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG.
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate
synthetase deficiency (citrullinemia type 1). Mol Genet Metab. 2003;80:302–6.
[ PubMed ]
• • Häberle J, Rubio V. Disorders of the urea cycle and related enzymes.
In: Saudubray JM, Baumgartner M, Walter J, eds. Inborn Metabolic Diseases.
Berlin: Springer; 2016 295-308.
• • Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C,
Parini R. First manifestation of citrullinemia type I as differential
diagnosis to postpartum psychosis in the puerperal period. Eur J Obstet
Gynecol Reprod Biol. 2010;149:228–9. [ PubMed ]
Refbacks
- There are currently no refbacks.