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CST Cerebroside sulfotransferase
CBS cerebroside sulfate
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cerebroside <biochemistry> Glycolipid found in brain (11% of dry matter). Sphingosine core with fatty amide or hydroxy fatty amide and a single monosaccharide on the alcohol group (either glucose or galactose).
(18 Nov 1997)
cerebroside lipidosis <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction.
Inheritance: autosomal recessive.
(27 Sep 1997)
cerebroside-sulfatase <enzyme> An enzyme that catalyses the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase a, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (leukodystrophy, metachromatic).
Chemical name: Cerebroside-3-sulfate 3-sulfohydrolase
Registry number: EC 3.1.6.8
(12 Dec 1998)
galactosylceramide lipoidosis <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia
Synonym: Krabbe leukodystrophy
(12 Dec 1998)
lipoidosis A disturbance of lipid metabolism with abnormal deposit of lipids in the cells.
(12 Dec 1998)
lipoidosis corneae An opaque, grayish ring at the periphery of the cornea just within the sclerocorneal junction, of frequent occurrence in the aged; it results from a deposit of fatty granules in, or hyaline degeneration of, the lamellae and cells of the cornea.
Synonym: anterior embryotoxon, arcus adiposus, arcus juvenilis, arcus lipoides, arcus senilis, gerontoxon, linea corneae senilis, lipoidosis corneae.
(05 Mar 2000)
lipoidosis cutis et mucosae <disease> A familial disease occurring in the course of latent diabetes, marked by yellowish nodules due to deposits of a protein-lipid complex on the oral tongue and sublingual and faucial areas, translucent keratotic papillomatous eyelid lesions, keratotic lesions on the extremities, and hoarseness.
It is due to a disturbance of lipid metabolism with autosomal recessive inheritance and is frequently associated with intracranial calcifications.
inheritance: autosomal recessive.
Synonym: hyalinasis cutis et mucosae, lipoidosis cutis et mucosae, Urbach-Wiethe disease.
(05 Mar 2000)
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