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Topic: Citrullinemia

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	Citrullinemia - Genetics Home Reference
		Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.
		Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals.
		Mutations in the ASS1 and SLC25A13 genes cause citrullinemia.
	ghr.nlm.nih.gov /condition=citrullinemia (1025 words)

	Citrullinemia
		Citrullinemia stems from a deficiency of Argininosuccinic acid Synthetase.
		It is suspected that the gene defect for Citrullinemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation.
		Citrullinemia Type II affects the Japanese population mainly, with one in 100,000 to 230,000 cases.
	www.savebabies.org /diseasedescriptions/citrullinemia.php (363 words)

	SLC25A13 - solute carrier family 25, member 13 (citrin)
		Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter (citrullinemia type II).
		Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
		Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene.
	www.ihop-net.org /UniPub/iHOP/gg/95297.html (1172 words)

	Citrullinemia (Site not responding. Last check: )
		Citrullinemia is an autosomal recessive inherited condition due to arginosuccinate synthetase deficiency, an enzyme involved in the urea cycle.
		Citrullinemia type II has been identified as the consequence of a deficiency of the mitochondrial aspartate glutamate carrier (citrin).
		Citrullinemia type III is characterized by partial arginosuccinate synthetase deficiency with a high residual enzyme activity, the pathogenicity of which is questionable.
	www.orpha.net /static/GB/citrullinemia.html (224 words)

	Rare Pediatric Disease Database (Site not responding. Last check: )
		Citrullinemia is a rare inherited disorder caused by a missing or poorly functioning enzyme, named argininosuccinate synthetase.
		Citrullinemia is a genetic disease inherited as an autosomal recessive trait.
		In order for a child to be affected by citrullinemia, that child must inherit two copies of the altered gene associated with citrullinemia, one from each parent.
	www.madisonsfoundation.org /content/3/1/display.asp?did=387 (886 words)

	Citrullinemia -
		Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.
		Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.
		Type II citrullinemia is primarily found in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals.
	www.medicalgeo.com /Med-Diseases-Ci---Cy/Citrullinemia.html (660 words)

	[No title] (Site not responding. Last check: )
		Adult-onset type II citrullinemia (603471) is caused by mutation in the same gene.
		Classic citrullinemia (CTLN1; 215700) is caused by mutation in the gene encoding argininosuccinate synthetase (ASS; 603470).
		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).
	zeta.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:605814] (1108 words)

	Citrullinemia
		The symptoms of citrullinemia are caused by the accumulation of ammonia in the blood.
		The estimated frequency of citrullinemia is one in 250,000 births.
		The treatment of citrullinemia is aimed at preventing excessive ammonia from being formed or from removing excessive ammonia during a hyperammonemic episode.
	hw.healthdialog.com /kbase/nord/nord310.htm (2506 words)

	DBGET Result: OMIM 215700
		They concluded that in type II citrullinemia, the decrease in the enzyme protein is due either to increased degradation of the enzyme or to decreased or inhibited translation in the liver.
		Patients with citrullinemia tend to have higher plasma ammonia concentrations for a given plasma glutamine concentration compared to those with OTC deficiency, and there was not a simple linear relationship between glutamine and ammonia in either condition.
		The mutations gly390 to arg (G390R; 603470.0009), IVS13+5G-A (603470.0017), and arg108 to leu (R108L; 603470.0014) were associated with classic citrullinemia, whereas the mutations trp179 to arg (W179R; 603470.0015) and gly362 to val (G362V; 603470.0016) were detected on alleles of mildly affected patients.
	www.genome.ad.jp /dbget-bin/www_bget?omim+215700 (2573 words)

	eMedicine - Citrullinemia : Article by Karl S Roth
		Thus, age of onset is as unpredictable in citrullinemia as in ornithine transcarbamylase (OTC) deficiency.
		Citrullinemia is inherited as an autosomal recessive trait; thus, both genders are equally affected.
		Both parents of an affected infant are assumed to be obligate heterozygotes because citrullinemia is an autosomal recessive trait; therefore, the recurrence rate in every subsequent pregnancy is 1 in 4, or 25%.
	www.emedicine.com /ped/topic406.htm (2406 words)

	Citrullinemia
		Citrullinemia is a rare inherited disorder caused by deficiency or lack of the enzyme argininosuccinate synthetase (ASS).
		Citrullinemia is inherited as an autosomal recessive trait.
		The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine.
	children.webmd.com /citrullinemia (484 words)

	GenMARK
		Though not as prevalent as BLAD, Citrullinemia in Holstein cattle can be costly.
		Citrullinemia is caused by a deficiency in the enzyme needed to break down ammonia in the blood.
		For Citrullinemia, affected calves usually die within five days of birth.
	www.genmarkag.com /cattle_tests.php (1083 words)

	Medical Dictionary: Citrullinemia type 1 - WrongDiagnosis.com - WrongDiagnosis.com
		Citrullinemia type 1: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE.
		Citrullinemia type 1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Citrullinemia type 1, or a subtype of Citrullinemia type 1, affects less than 200,000 people in the US population.
	www.wrongdiagnosis.com /medical/citrullinemia_type_1_printer.htm (239 words)

	HSC: News Releases
		The adult-onset version of the disorder, called type II citrullinemia, is caused by an amino acid deficiency and can lead to severe liver damage and even death.
		Most patients with type II citrullinemia suffer neurological symptoms such as disorientation, tremor and coma, and a majority of patients die within a few years after onset of the symptoms.
		Type II citrullinemia is most common in Japan, where one person in 100,000 has the disorder.
	www.sickkids.on.ca /releases/raregene.asp (390 words)

	Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia -- ...
		Citrullinemia is caused by a deficiency of the urea cycle enzyme
		Type II citrullinemia (citrin deficiency): a mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein, p.
		Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.
	mcb.asm.org /cgi/content/full/24/2/527 (6127 words)

	DBGET Result: OMIM 603470
		The authors concluded that the elucidation of the structure of the human ASS gene made it possible to use intronic primers for molecular analysis of patients with mild disease and the classic form, and provided another option for prenatal diagnostics in affected families with the severe type.
		Although undetectable ASS protein is the criterion of type III citrullinemia, a very low amount of ASS crossreacting material was detected in the liver of a patient with this form of the disease.
		Mutations causing human citrullinemia are extremely heterogeneous; all nonconsanguineous persons studied to 1991 had been found to be compound heterozygotes.
	www.genome.ad.jp /dbget-bin/www_bget?omim+603470 (2795 words)

	Health Library -
		Citrullinemia is a rare inherited disorder caused by deficiency or lack of the enzyme argininosuccinate synthetase (ASS).
		Argininosuccinate synthetase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle.
		The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine.
	www.memorialhermann.org /library/healthguide/en-us/illnessconditions/topic.asp?hwid=nord310 (458 words)

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