| Descriptor English: | Homocystinuria | ||||||
| Descriptor Spanish: |
Homocistinuria
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| 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 |
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| 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 |
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| 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) |
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| 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 |
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| Previous Indexing: |
Amino Acid Metabolism, Inborn Errors (1966) Mental Retardation (1966) |
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| Public MeSH Note: | 1969 |
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| History Note: | 1969(1967) |
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| Related: |
Cystathionine beta-Synthase
MeSH | ||||||
| DeCS ID: | 6868 | ||||||
| Unique ID: | D006712 | ||||||
| NLM Classification: | WD 205.5.A5 | ||||||
| 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
Cystathionine beta-Synthase Deficiency Disease
- Narrower
| 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 |
| 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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