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Homocystinuria MeSH Descriptor Data 2022


MeSH Heading
Homocystinuria
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
Unique ID
D006712
RDF Unique Identifier
http://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)
Entry Term(s)
CBS Deficiency
Cystathionine Beta Synthase Deficiency
Cystathionine beta-Synthase Deficiency Disease
Deficiency Disease, Cystathionine beta-Synthase
NLM Classification #
QU 265.5.A5
Previous Indexing
Amino Acid Metabolism, Inborn Errors (1966)
Mental Retardation (1966)
See Also
Cystathionine beta-Synthase
Public MeSH Note
1969
History Note
1969(1967)
Date Established
1969/01/01
Date of Entry
1999/01/01
Revision Date
2014/06/13
Homocystinuria Preferred
Cystathionine beta-Synthase Deficiency Disease Narrower
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