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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 Amino Acid Metabolism, Inherited Disorders Amino Acid Metabolism, Inherited Disorders Inherited Errors of Amino Acid Metabolism

Below are MeSH descriptors whose meaning is more general than "Amino Acid Metabolism, Inborn Errors".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]

Below are MeSH descriptors whose meaning is related to "Amino Acid Metabolism, Inborn Errors".

Below are MeSH descriptors whose meaning is more specific than "Amino Acid Metabolism, Inborn Errors".

publications

Timeline | Most Recent

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.

Bar chart showing 11 publications over 9 distinct years, with a maximum of 2 publications in 2009 and 2015

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1996	0	1	1
2001	1	0	1
2005	1	0	1
2008	0	1	1
2009	0	2	2
2011	1	0	1
2015	2	0	2
2016	1	0	1
2020	1	0	1

Below are the most recent publications written about "Amino Acid Metabolism, Inborn Errors" by people in Profiles.

Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab. 2020 11; 131(3):325-340.

View in: PubMed
Motzek A, Kne?evic J, Switzeny OJ, Cooper A, Baric I, Beluzic R, Strauss KA, Puffenberger EG, Mudd SH, Vugrek O, Zechner U. Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. PLoS One. 2016; 11(3):e0151261.

View in: PubMed
Manoli I, Myles JG, Sloan JL, Carrillo-Carrasco N, Morava E, Strauss KA, Morton H, Venditti CP. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. Genet Med. 2016 Apr; 18(4):396-404.

View in: PubMed
Strauss KA, Ferreira C, Bottiglieri T, Zhao X, Arning E, Zhang S, Zeisel SH, Escolar ML, Presnick N, Puffenberger EG, Vugrek O, Kovacevic L, Wagner C, Mazariegos GV, Mudd SH, Soltys K. Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):44-52.

View in: PubMed
Pearl PL, Schreiber J, Theodore WH, McCarter R, Barrios ES, Yu J, Wiggs E, He J, Gibson KM. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4.

View in: PubMed
Strauss KA, Brumbaugh J, Duffy A, Wardley B, Robinson D, Hendrickson C, Tortorelli S, Moser AB, Puffenberger EG, Rider NL, Morton DH. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab. 2011 Sep-Oct; 104(1-2):93-106.

View in: PubMed
Strauss KA, Donnelly P, Wintermark M. Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. Brain. 2010 Jan; 133(Pt 1):76-92.

View in: PubMed
Sahai I, Marsden D. Newborn screening. Crit Rev Clin Lab Sci. 2009; 46(2):55-82.

View in: PubMed
Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008 Nov; 83(5):604-9.

View in: PubMed
Strauss KA. Glutaric aciduria type 1: a clinician's view of progress. Brain. 2005 Apr; 128(Pt 4):697-9.

View in: PubMed

People

Explore

Similar Concepts

Top Journals