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.
| Descriptor ID |
D000592
|
| 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 this website by year, and whether "Amino Acid Metabolism, Inborn Errors" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
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| 1995 | 1 | 0 | 1 |
| 1996 | 3 | 0 | 3 |
| 1998 | 4 | 0 | 4 |
| 1999 | 2 | 0 | 2 |
| 2000 | 1 | 0 | 1 |
| 2003 | 1 | 1 | 2 |
| 2004 | 2 | 0 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2008 | 3 | 0 | 3 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 0 | 1 |
| 2014 | 2 | 0 | 2 |
| 2015 | 4 | 0 | 4 |
| 2016 | 5 | 0 | 5 |
| 2017 | 3 | 0 | 3 |
| 2018 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
| 2022 | 4 | 0 | 4 |
| 2023 | 2 | 0 | 2 |
| 2024 | 3 | 0 | 3 |
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Below are the most recent publications written about "Amino Acid Metabolism, Inborn Errors" by people in Profiles.
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Optimizing the anesthetic care of patients with aromatic l-amino acid decarboxylase deficiency. Paediatr Anaesth. 2025 Feb; 35(2):99-106.
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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024 May; 142(1):108363.
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Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024 Mar 26; 43(3):113861.
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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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2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor. Mol Genet Metab. 2023 04; 138(4):107549.
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Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 02; 25(2):100337.
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Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations. Mol Genet Metab. 2022 Dec; 137(4):359-381.
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Deciphering the effect of mutations in MMAA protein causing methylmalonic acidemia-A computational approach. Adv Protein Chem Struct Biol. 2022; 132:199-220.
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Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy. Nat Commun. 2022 01 10; 13(1):134.
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Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1218-1222.