Amino Acid Metabolism, Inborn Errors
"Amino Acid Metabolism, Inborn Errors" 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.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
MeSH Number(s)
C16.320.565.100
C18.452.648.100
Concept/Terms
Amino Acid Metabolism, Inborn Errors- Amino Acid Metabolism, Inborn Errors
- Amino Acidopathies, Congenital
- Amino Acidopathy, Congenital
- Congenital Amino Acidopathy
- Inborn Errors, Amino Acid Metabolism
- Amino Acidopathies, Inborn
- Amino Acidopathy, Inborn
- Inborn Amino Acidopathies
- Inborn Amino Acidopathy
- Congenital Amino Acidopathies
- Amino Acid Metabolism, Inborn Error
- Amino Acid Metabolism Disorders, Inborn
Below are MeSH descriptors whose meaning is more general than "Amino Acid Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Amino Acid Metabolism, Inborn Errors".
This graph shows the total number of publications written about "Amino Acid Metabolism, Inborn Errors" by people in Harvard Catalyst Profiles by year, and whether "Amino Acid Metabolism, Inborn Errors" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1994 | 3 | 0 | 3 |
1995 | 1 | 0 | 1 |
1996 | 7 | 0 | 7 |
1997 | 5 | 0 | 5 |
1998 | 3 | 1 | 4 |
1999 | 1 | 0 | 1 |
2000 | 3 | 0 | 3 |
2001 | 4 | 0 | 4 |
2003 | 2 | 0 | 2 |
2004 | 5 | 0 | 5 |
2005 | 4 | 1 | 5 |
2006 | 3 | 0 | 3 |
2007 | 5 | 0 | 5 |
2008 | 5 | 2 | 7 |
2009 | 1 | 1 | 2 |
2010 | 1 | 1 | 2 |
2011 | 2 | 0 | 2 |
2012 | 5 | 0 | 5 |
2013 | 2 | 1 | 3 |
2014 | 2 | 0 | 2 |
2015 | 3 | 0 | 3 |
2016 | 7 | 0 | 7 |
2017 | 6 | 0 | 6 |
2018 | 4 | 1 | 5 |
2019 | 2 | 0 | 2 |
2020 | 6 | 0 | 6 |
2021 | 9 | 1 | 10 |
2022 | 4 | 1 | 5 |
2023 | 5 | 0 | 5 |
2024 | 1 | 0 | 1 |
Below are the most recent publications written about "Amino Acid Metabolism, Inborn Errors" by people in Profiles.
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Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. JCI Insight. 2024 Feb 22; 9(4).
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ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386.
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Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Hum Genet. 2023 Dec; 142(12):1755-1776.
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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Mol Genet Metab. 2023 07; 139(3):107624.
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Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2023 09; 46(5):992-1003.
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The presence and severity of epilepsy coincide with reduced ?-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency. Epilepsia. 2023 06; 64(6):1516-1526.
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Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study. Indian J Pediatr. 2022 09; 89(9):885-893.
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Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments. Metab Brain Dis. 2022 06; 37(5):1317-1335.
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3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method. J Inherit Metab Dis. 2022 05; 45(3):445-455.
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Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Int J Mol Sci. 2022 Feb 26; 23(5).