"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".
This graph shows the total number of publications written about "Homocystinuria" by people in this website by year, and whether "Homocystinuria" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Homocystinuria" by people in Profiles.
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Venincasa VD, Sridhar J. Woman with sudden loss of vision: homocystinuria. JAMA Ophthalmol. 2013 Apr; 131(4):531-2.
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Wang L, Chen X, Tang B, Hua X, Klein-Szanto A, Kruger WD. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum Mol Genet. 2005 Aug 01; 14(15):2201-8.
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Spaeth GL. Screening for homocystinuria. Surv Ophthalmol. 1984 Nov-Dec; 29(3):230.
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Spaeth GL, Barber GW. Homocystinuria and the passing of the one gene--one enzyme concept of disease. J Med Philos. 1980 Mar; 5(1):8-21.
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Spaeth GL, Barber GW. Homocystinuria and the passing of the one gene-one enzyme concept of disease. Trans Am Ophthalmol Soc. 1978; 76:296-315.
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Spaeth GL. The usefulness of pyridoxine in the treatment of homocystinuria: a review of postulated mechanisms of action and a new hypothesis. Birth Defects Orig Artic Ser. 1976; 12(3):347-57.
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Barber GW, Spaeth GL. The successful treatment of homocystinuria with pyridoxine. J Pediatr. 1969 Sep; 75(3):463-78.
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Spaeth GL. Homocystinuria: the significance of its successful treatment. Trans Ophthalmol Soc U K (1962). 1969; 88:47-78.
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Spaeth GL, Barber GW. Prevalence of homocystinuria among the mentally retarded: evaluation of a specific screening test. Pediatrics. 1967 Oct; 40(4):586-9.