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
|
| 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 |
|---|
| 1998 | 2 | 1 | 3 |
| 2000 | 1 | 0 | 1 |
| 2014 | 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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Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass. World J Pediatr. 2014 Feb; 10(1):83-5.
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Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria. Ann Thorac Surg. 2001 Oct; 72(4):1391-2.
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Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase. J Biol Chem. 2000 Mar 17; 275(11):7958-63.
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Methylmalonic aciduria (cblF): case report and response to therapy. Am J Med Genet. 1998 Oct 12; 79(5):373-5.
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Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry. 1998 Jul 14; 37(28):10325-35.
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Liver transplantation for the treatment of urea cycle disorders. J Inherit Metab Dis. 1998; 21 Suppl 1:112-8.
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The relationship between aminoaciduria and plasma hemoglobin levels. Rom J Intern Med. 1993 Jul-Sep; 31(3):223-8.
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Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1. Cytogenet Cell Genet. 1991; 56(3-4):178-81.
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Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology. 1989 Jun; 39(6):817-20.
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Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes. Ann N Y Acad Sci. 1989; 573:337-46.