"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.
View timeline visualization
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2004 | 0 | 1 | 1 |
| 2005 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2008 | 1 | 1 | 2 |
| 2009 | 1 | 0 | 1 |
| 2010 | 3 | 0 | 3 |
| 2011 | 2 | 0 | 2 |
| 2012 | 2 | 0 | 2 |
| 2014 | 3 | 0 | 3 |
| 2015 | 0 | 3 | 3 |
| 2017 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2022 | 1 | 1 | 2 |
Below are the most recent publications written about "Homocystinuria" by people in Profiles.
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Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).
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Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy. Nat Commun. 2022 01 10; 13(1):134.
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Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients. Clin Chim Acta. 2020 Oct; 509:126-134.
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Meta-analysis of association of FTO genetic variation with PCOS must account for obesity. Genomics. 2020 05; 112(3):2164-2165.
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Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. J Radiol Case Rep. 2018 Jan; 12(1):1-8.
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Taurine treatment prevents derangement of the hepatic γ-glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism. FASEB J. 2018 03; 32(3):1265-1280.
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Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria. Mol Genet Metab. 2017 04; 120(4):325-336.
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Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening. Appl Neuropsychol Child. 2018 Apr-Jun; 7(2):143-149.
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Thioethers as markers of hydrogen sulfide production in homocystinurias. Biochimie. 2016 Jul; 126:14-20.
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Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia. Mol Genet Metab. 2016 Mar; 117(3):344-50.