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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 1 | 0 | 1 |
| 2006 | 0 | 1 | 1 |
| 2009 | 0 | 1 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2021 | 1 | 1 | 2 |
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Below are the most recent publications written about "Brain Diseases, Metabolic, Inborn" by people in Profiles.
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Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Hum Mutat. 2021 06; 42(6):745-761.
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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852.
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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480.
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Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. Am J Med Genet A. 2019 06; 179(6):1015-1019.
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
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Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing. Mol Genet Metab. 2013 Dec; 110(4):465-71.
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Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8.
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Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging. 2013 Feb; 37(2):294-312.
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Case records of the Massachusetts General Hospital. Case 12-2009. A 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members. N Engl J Med. 2009 Apr 16; 360(16):1656-65.
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Practice parameter: diagnostic assessment of the child with status epilepticus (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2006 Nov 14; 67(9):1542-50.