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Citrullinemia type 2

Citrullinemia type 2 (citrin) p Citt, Mett, Thrt, Tyrt... [Pg.80]

Aspartate-glutamate Citrullinemia type 2 CITRIN 7q21.3 Liver Citrulline T ... [Pg.196]

Citrullinemia type 2 (SLC25A13 gene) Citrin deficiency... [Pg.265]

Citrullinemia type 2 (decreased AS acitivity, citrin deficiency) Argininosuccinic aciduria... [Pg.267]

Citrullinemia type 1 p Citt, Glnt, Alat, Argt... [Pg.80]

Arginino succinate Citrullinemia type 1 AS 9q34 Liver Skin Citrulline TTT Orotic acid T... [Pg.196]

Citrin is an aspartate-glutamate antiporter that has a role both in the urea cycle and in the malate aspartate shuttle. It is necessary for the transport of aspartate produced in the mitochondria into the cytosol, where it is used by AS. Its role in the malate-aspartate shuttle is to transport cytosolic NADH reducing equivalents into the mitochondria, where they are used in oxidative phosphorylation. Defects in citrin cause citrullinemia type II. Patients manifest later-onset intermittent hyperammonemic encephalopathy as in HHH syndrome. [Pg.201]

Shaikh AY, Muranjan MN, Gogtay NJ, Lahiri KR. Possible mechanism for zonisa-mide-induced hyperammonemia in a child with citrullinemia type 1. Indian J Med Sci 2009 63(5) 203-6. [Pg.204]

See other pages where Citrullinemia type 2 is mentioned: [Pg.39]    [Pg.40]    [Pg.264]    [Pg.679]    [Pg.248]    [Pg.71]    [Pg.123]    [Pg.188]   
See also in sourсe #XX -- [ Pg.79 ]



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Citrullinemia

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