 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
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| MeSH Number(s) |
C10.228.140.163.100 C16.320.565.189 C18.452.132.100 C18.452.648.189
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| 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
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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 |
|---|
| 2011 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2022 | 1 | 0 | 1 | | 2025 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Brain Diseases, Metabolic, Inborn" by people in Profiles.
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Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stöckler-Ipsiroglu S, Wallis H. Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. Orphanet J Rare Dis. 2025 Aug 07; 20(1):408.
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Murphey K, George PE, Pencheva B, Porter CC, Wechsler SB, Gambello MJ, Li H. Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I. Am J Med Genet A. 2022 09; 188(9):2707-2711.
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Ullio-Gamboa G, Udobi KC, Dezard S, Perna MK, Miles KN, Costa N, Taran F, Pruvost A, Benoit JP, Skelton MR, Lonlay P, Mabondzo A. Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency. Nanomedicine (Lond). 2019 06; 14(12):1579-1593.
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Filatov A, Milla S, Shekdar K, Hygino da Cruz C, Fatterpekar GM. Imaging features of acquired pediatric metabolic and toxic white matter disorders. Top Magn Reson Imaging. 2011 Oct; 22(5):239-50.
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Wajner M, Goodman SI. Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies. J Bioenerg Biomembr. 2011 Feb; 43(1):31-8.
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Zinnanti WJ, Lazovic J, Housman C, LaNoue K, O'Callaghan JP, Simpson I, Woontner M, Goodman SI, Connor JR, Jacobs RE, Cheng KC. Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I. J Clin Invest. 2007 Nov; 117(11):3258-70.
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Bjugstad KB, Crnic LS, Goodman SI, Freed CR. Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity. J Inherit Metab Dis. 2006 Oct; 29(5):612-9.
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Zinnanti WJ, Lazovic J, Wolpert EB, Antonetti DA, Smith MB, Connor JR, Woontner M, Goodman SI, Cheng KC. New insights for glutaric aciduria type I. Brain. 2006 Aug; 129(Pt 8):e55.
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