Citrullinemia

Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in the liver. These reactions process excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. (From the Wikpedia article Citrullinemia.)

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Recent Publications on Citrullinemia:
Use of peritoneal dialysis and mesothelium in non primary renal conditions. The management of a handful of non renal clinical conditions includes...	6th November, 2009	Laboratory of Experimental Nephrology, Ha'Emek Medical Center, Afula,	Adv Perit Dial. 2009;25:2-5.
Cranial MRI in acute hyperammonemic encephalopathy. Cranial magnetic resonance imaging was performed in three cases of acute...	22nd September, 2009	Department of Neurology, National Institute of Mental Health and	Pediatr Neurol. 2009 Aug;41(2):139-42. DOI Direct Link
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a...	10th September, 2009	Department of Pediatrics, University of California-Irvine, Irvine, CA	Pediatr Res. 2009 Jul;66(1):35-41. DOI Direct Link
Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. The management of a handful of non renal clinical conditions includes...	9th September, 2009	Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169,	Hum Genet. 2009 Aug;126(2):342.
Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. The management of a handful of non renal clinical conditions includes...	9th September, 2009	Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169,	Hum Genet. 2009 Aug;126(2):341.
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Citrullinemia Patents:
US Patent No.	Title
4100160	Therapeutic compositions comprising alpha-hydroxy analogs of essential amino acids and their administration to humans for promotion of protein synthesis and suppression of urea formation
6190887	Expression of an exogenous gene in a mammalian cell by use of a non-mammalian DNA virus having an altered coat protein
6238914	Use of a non-mammalian DNA virus to express an exogenous gene in a mammalian cell
6281009	Use of a non-mammalian DNA virus to express an exogenous gene in a mammalian cell
6338953	Expression of an exogenous gene in a mammalian cell by use of a non-mammalian DNA virus having an altered coat protein
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