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citrin deficiency
MIM.605814
Wednesday 10 March 2010
Definition: Citrullinemia is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase and characterized primarily by elevated serum and urine citrulline levels (Kobayashi et al., 1999).
Citrin deficiency (or type 2 citrullinemia) is caused by mutation in the SLC25A13 gene (MIM.603859).
Nota bene: Adult-onset type 2 citrullinemia (MIM.603471) is caused by mutation in the same gene SLC25A13. Classic citrullinemia (CTLN1; MIM.215700) is caused by mutation in the gene encoding argininosuccinate synthetase (ASS; MIM.603470).
Types
neonatal citrin deficiency (MIM.605814) adult-type citrin deficiency (MIM.603471)
Synopsis
neonatal intrahepatic cholestasis neonatal hepatitis neonatal hepatic necrosis
See also
fetal hepatopathy
References
Citrin deficiency, a perplexing global disorder. Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O’Brien WE, Scaglia F, Wong LJ. Mol Genet Metab. 2009 Jan;96(1):44-9. PMID: 19036621
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. Chen HW, Chen HL, Ni YH, Lee NC, Chien YH, Hwu WL, Huang YT, Chiu PC, Chang MH. J Pediatr Gastroenterol Nutr. 2008 Aug;47(2):187-92. PMID: 18664871