"Homocystinuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D006712
|
| MeSH 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
|
| Concept/Terms |
Cystathionine beta-Synthase Deficiency Disease- Cystathionine beta-Synthase Deficiency Disease
- Cystathionine beta Synthase Deficiency Disease
- Cystathionine Beta Synthase Deficiency
- Deficiency Disease, Cystathionine beta-Synthase
- Deficiency Disease, Cystathionine beta Synthase
- CBS Deficiency
- CBS Deficiencies
- Deficiencies, CBS
- Deficiency, CBS
|
Below are MeSH descriptors whose meaning is more general than "Homocystinuria".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Homocystinuria [C10.228.140.163.100.365]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Hyperhomocysteinemia [C16.320.565.100.480]
- Homocystinuria [C16.320.565.100.480.500]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Homocystinuria [C16.320.565.189.365]
- Skin and Connective Tissue Diseases [C17]
- Connective Tissue Diseases [C17.300]
- Homocystinuria [C17.300.428]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Homocystinuria [C18.452.132.100.365]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Hyperhomocysteinemia [C18.452.648.100.480]
- Homocystinuria [C18.452.648.100.480.500]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Homocystinuria [C18.452.648.189.365]
Below are MeSH descriptors whose meaning is more specific than "Homocystinuria".
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Below are the most recent publications written about "Homocystinuria" by people in Profiles.