|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Homocystinuria
|
|
Descriptor Spanish:
|
|
Homocistinuria
|
|
Descriptor Portuguese:
|
|
Homocistinúria
|
|
Synonyms English:
|
|
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
|
|
Tree Number:
|
|
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
|
|
Definition English:
|
|
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:
|
|
Cystathionine beta-Synthase
|
|
History Note English:
|
|
1969(1967)
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
6868
|
|
Unique Identifier:
|
|
D006712
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|
|