Search on: HOMOCYSTINURIA 
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Descriptor English:   Homocystinuria 
Descriptor Spanish:   Homocistinuria 
Descriptor Portuguese:   Homocistinúria 
Synonyms English:   Cystathionine Beta Synthase Deficiency
Deficiency Disease, Cystathionine beta-Synthase
CBS Deficiencies
Cystathionine beta Synthase Deficiency Disease
Deficiencies, CBS
Deficiency Disease, Cystathionine beta Synthase
Deficiency, CBS
Cystathionine beta-Synthase Deficiency Disease
CBS Deficiency  
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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   6868 
Unique Identifier:   D006712 

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