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
|
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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| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 1998 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2003 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
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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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Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. Clin Chim Acta. 2020 Feb; 501:216-221.
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Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003 Nov; 49(11):1797-817.
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The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002; 3:17-45.
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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr. 1998 Mar; 132(3 Pt 1):519-23.
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A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. Eur J Hum Genet. 1997 May-Jun; 5(3):171-4.
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Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep; 53(3):768-74.
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A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Pediatrics. 1982 Oct; 70(4):526-31.
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Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18.