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DeCS
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Descriptor English:
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Homocystinuria
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Descriptor Spanish:
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homocistinuria
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Descriptor Portuguese:
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Homocistinúria
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Synonyms English:
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CBS Deficiencies
CBS Deficiency
Cystathionine Beta Synthase Deficiency
Cystathionine beta Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease
Deficiencies, CBS
Deficiency Disease, Cystathionine beta Synthase
Deficiency Disease, Cystathionine beta-Synthase
Deficiency, CBS
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Tree Number:
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C10.228.140.163.100.365
C16.320.565.100.480.500
C16.320.565.189.365
C17.300.428
C18.452.132.100.365
C18.452.648.100.480.500
C18.452.648.189.365
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Definition English:
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Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) |
See Related English:
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Cystathionine beta-Synthase
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History Note English:
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1969(1967)
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Allowable Qualifiers English:
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Record Number:
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6868
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Unique Identifier:
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D006712
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Occurrence in VHL:
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Similar:
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DeCS
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