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  • Canavan disease
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  • canavans disease
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CD Canavan disease
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canavan disease Spongy degeneration of cerebral white matter, a rare autosomal recessive form of leukodystrophy. It is characterised by early onset, widespread demyelination and vacuolation of the white matter that gives rise to a spongy appearance, severe mental retardation, megalocephaly, atony of the neck muscles, spasticity of the extremities, and blindness. Death occurs at about 18 months of age.
(12 Dec 1998)
Canavan's disease Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter.
See: leukodystrophy.
Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy.
(05 Mar 2000)
Canavan's sclerosis Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter.
See: leukodystrophy.
Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy.
(05 Mar 2000)
Canavan, Myrtelle <person> U.S. Pathologist, 1879-1953.
See: Canavan's disease, Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease.
(05 Mar 2000)
Canavan-van Bogaert-Bertrand disease Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter.
See: leukodystrophy.
Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy.
(05 Mar 2000)
canavanase <enzyme> A ureahydrolase that catalyses the hydrolysis of arginine and canavanine to yield l-ornithine and urea.
Chemical name: L-Arginine amidinohydrolase
Registry number: EC 3.5.3.1
(12 Dec 1998)
canavanine <chemical> Chemical name: L-Homoserine, O-((aminoiminomethyl)amino)-
(12 Dec 1998)
canavanine hydrolase <enzyme> Catalyses hydrolysis of l-canavanine at the oxygen-nitrogen bond to yield l-homoserine and hydroxyguanidine; isolated from the tobacco budworm heliothis virescens
Registry number: EC 3.13.1.1
(26 Jun 1999)
canavanine reductase <enzyme> Forms guanidine
Registry number: EC 1.4.-
(26 Jun 1999)
canavaninosuccinate synthetase <enzyme> Aspartate + ureido homoserine + ATP yields canavaninosuccinate + AMP + ppi
Registry number: EC 6.3.4.-
(26 Jun 1999)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 2 ÆäÀÌÁö: 1
  • Canavan Disease - »õâ A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
    Synonyms : Canavan Disease, Familial Form, Canavan Disease, Infantile, Canavan Disease, Juvenile, Canavan Disease, Neonatal, Canavan Disease, Sporadic Form, Canavan Disease, Type I, Canavan Disease, Type II, Canavan Disease, Type III, Deficiency Disease, Aspartoacylase
  • Canavanine - »õâ
    Synonyms :
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canavanine an amino acid found in the jack bean
Ãâó: wordnet.princeton.edu/perl/webwn
Canavan's disease (Can
Ãâó: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
canavanine (can
Ãâó: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
Canavan-van Bogaert-Bertrand disease (Can
Ãâó: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
Canavan disease A neurodegenerative disease of infancy in which the lack of the enzyme aspartoacyclase results in the buildup of N-acetyl aspartate, leading to demyelination in the CNS, as well as increased brain volume and weight and spongy degeneration in the subcortical white matter.
Ãâó: www.myelin.org/glossary.htm
WordNet ÀÏ¹Ý ¿µ¿µ »çÀü °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
Canavan an amino acid found in the jack bean
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