 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
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| MeSH Number(s) |
C16.320.565.100 C18.452.648.100
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| 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
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
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| 1998 | 1 | 0 | 1 | | 2000 | 1 | 0 | 1 | | 2002 | 0 | 1 | 1 | | 2003 | 1 | 0 | 1 | | 2009 | 0 | 1 | 1 | | 2010 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 2 | 0 | 2 | | 2020 | 2 | 0 | 2 |
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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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Wright EL, Baker PR. Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen. J Clin Endocrinol Metab. 2020 03 01; 105(3).
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Bernstein LE, Burns C, Drumm M, Gaughan S, Sailer M, Baker PR. Impact on Isoleucine and Valine Supplementation When Decreasing Use of Medical Food in the Nutritional Management of Methylmalonic Acidemia. Nutrients. 2020 Feb 13; 12(2).
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Goodman SI, Woontner M. An explanation for metabolite excretion in high- and low-excretor patients with glutaric acidemia type 1. Mol Genet Metab. 2019 08; 127(4):325-326.
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Pradhan AD, Paynter NP, Everett BM, Glynn RJ, Amarenco P, Elam M, Ginsberg H, Hiatt WR, Ishibashi S, Koenig W, Nordestgaard BG, Fruchart JC, Libby P, Ridker PM. Rationale and design of the Pemafibrate to Reduce Cardiovascular Outcomes by Reducing Triglycerides in Patients with Diabetes (PROMINENT) study. Am Heart J. 2018 12; 206:80-93.
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Vendramin Pasquetti M, Meier L, Loureiro S, Ganzella M, Junges B, Barbieri Caus L, Umpierrez Amaral A, Koeller DM, Goodman S, Woontner M, Gomes de Souza DO, Wajner M, Calcagnotto ME. Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I. Epilepsia. 2017 10; 58(10):1771-1781.
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Rodrigues MDN, Seminotti B, Zanatta Â, de Mello Gonçalves A, Bellaver B, Amaral AU, Quincozes-Santos A, Goodman SI, Woontner M, Souza DO, Wajner M. Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I. Mol Neurobiol. 2017 08; 54(6):4795-4805.
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Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. Mol Genet Metab. 2016 09; 119(1-2):50-6.
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Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M. The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. . 2016 06; 170(6):1600-2.
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Rodrigues MD, Seminotti B, Amaral AU, Leipnitz G, Goodman SI, Woontner M, de Souza DO, Wajner M. Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology. J Neurol Sci. 2015 Dec 15; 359(1-2):133-40.
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Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis. 2015 Aug 20; 10:99.
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