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Descriptor English: Homocystinuria
Descriptor Spanish: Homocistinuria
Descriptor Portuguese: Homocistinúria
Descriptor French: Homocystinurie
Entry term(s): 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(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D006712
Scope note: 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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Amino Acid Metabolism, Inborn Errors (1966)
Mental Retardation (1966)
Public MeSH Note: 1969
History Note: 1969(1967)
Related: Cystathionine beta-Synthase MeSH
DeCS ID: 6868
Unique ID: D006712
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1969/01/01
Date of Entry: 1999/01/01
Revision Date: 2014/06/13
Homocystinuria - Preferred
Concept UI M0010516
Scope note 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)
Preferred term Homocystinuria
Cystathionine beta-Synthase Deficiency Disease - Narrower
Concept UI M0335279
Preferred term Cystathionine beta-Synthase Deficiency Disease
Entry term(s) CBS Deficiencies
CBS Deficiency
Cystathionine Beta Synthase Deficiency
Cystathionine beta Synthase Deficiency Disease
Deficiencies, CBS
Deficiency Disease, Cystathionine beta Synthase
Deficiency Disease, Cystathionine beta-Synthase
Deficiency, CBS



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