Brain Diseases, Metabolic, Inborn
"Brain Diseases, Metabolic, Inborn" 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.
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
| Descriptor ID |
D020739
|
| MeSH Number(s) |
C10.228.140.163.100 C16.320.565.189 C18.452.132.100 C18.452.648.189
|
| Concept/Terms |
Brain Diseases, Metabolic, Inborn- Brain Diseases, Metabolic, Inborn
- Encephalopathies, Metabolic, Inborn
- Inborn Errors of Metabolism, Brain
- Metabolic Diseases, Inborn, Brain
- Inborn Metabolic Brain Disorders
- Inborn Metabolic Disorders, Brain
- Metabolic Brain Diseases, Inborn
- Metabolic Brain Syndrome, Inborn
- Brain Syndrome, Metabolic, Inborn
- Inborn Metabolic Brain Diseases
Central Nervous System Inborn Metabolic Diseases- Central Nervous System Inborn Metabolic Diseases
- Metabolic Disorders, CNS, Inborn
- Metabolic Diseases, Inborn, Central Nervous System
- Central Nervous System Inborn Metabolic Disorders
- CNS Metabolic Disorders, Inborn
Brain Diseases, Metabolic, Inherited- Brain Diseases, Metabolic, Inherited
- Familial Metabolic Brain Diseases
- Familial Metabolic Disorders, Brain
- Metabolic Disorders, Familial, Brain
- Inherited Metabolic Disorders, Brain
- Metabolic Brain Diseases, Familial
- Metabolic Brain Diseases, Inherited
- Metabolic Disorders, Brain, Inherited
- Brain Diseases, Metabolic, Familial
- Inherited Metabolic Brain Diseases
|
Below are MeSH descriptors whose meaning is more general than "Brain Diseases, Metabolic, Inborn".
- 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]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
Below are MeSH descriptors whose meaning is more specific than "Brain Diseases, Metabolic, Inborn".
This graph shows the total number of publications written about "Brain Diseases, Metabolic, Inborn" by people in this website by year, and whether "Brain Diseases, Metabolic, Inborn" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 0 | 1 |
| 2003 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Brain Diseases, Metabolic, Inborn" by people in Profiles.
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Cachia D, Stine C. Child Neurology: cognitive delay in a 7-year-old girl. Neurology. 2013 Nov 12; 81(20):e148-50.
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Strauss KA, Donnelly P, Wintermark M. Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. Brain. 2010 Jan; 133(Pt 1):76-92.
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Strauss KA, Lazovic J, Wintermark M, Morton DH. Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain. 2007 Jul; 130(Pt 7):1905-20.
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Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003 Aug 15; 121C(1):38-52.
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Strauss KA, Morton DH. Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet C Semin Med Genet. 2003 Aug 15; 121C(1):53-70.
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Kaye EM, Sena-Esteves M. Gene therapy for the central nervous system in the lysosomal storage disorders. Neurol Clin. 2002 Aug; 20(3):879-901.