"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)
|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 [C18.422.214.171.1245]
- 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.
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|Year||Major Topic||Minor Topic||Total|
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Below are the most recent publications written about "Homocystinuria" by people in Profiles.
Politi LS, Salsano E, Biffi A. Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis? JAMA Neurol. 2018 08 01; 75(8):1027.
Gupta P, Goyal S, Grant PE, Fawaz R, Lok J, Yager P, Sharma A, Sassower K, Noviski N, Browning M, Sahai I. Acute liver failure and reversible leukoencephalopathy in a pediatric patient with homocystinuria. J Pediatr Gastroenterol Nutr. 2010 Nov; 51(5):668-71.
Jakubowski H, Boers GH, Strauss KA. Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. FASEB J. 2008 Dec; 22(12):4071-6.