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 6 publications over 6 distinct years, with a maximum of 1 publications in 2017 and 2018 and 2020 and 2021 and 2022 and 2024

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Year	Major Topic	Minor Topic	Total
2017	1	0	1
2018	1	0	1
2020	1	0	1
2021	1	0	1
2022	0	1	1
2024	1	0	1

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

Bilal M, Jafri L, Majid H, Khan AH, Ahmed S. Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan. J Coll Physicians Surg Pak. 2024 Jun; 34(6):646-649.

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Piechnik M, Amendum PC, Sawamoto K, Stapleton M, Khan S, Fnu N, ?lvarez V, Pachon AMH, Danos O, Bruder JT, Karumuthil-Melethil S, Tomatsu S. Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. Int J Mol Sci. 2022 Oct 21; 23(20).

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Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Mol Genet Genomic Med. 2021 04; 9(4):e1621.

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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.

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Majid H, Jafri L, Khan AH, Ali ZZ, Jamil A, Yusufzai N, Fatimah M, Afroze B. Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. J Pak Med Assoc. 2018 Apr; 68(4):510-514.

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Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B. Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. J Coll Physicians Surg Pak. 2017 Apr; 27(4):218-221.

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Stigsby B, Yarworth SM, Rahbeeni Z, Dabbagh O, de Gier Munk C, Abdo N, Brismar J, Gascon GG, Ozand PT. Neurophysiologic correlates of organic acidemias: a survey of 107 patients. Brain Dev. 1994 Nov; 16 Suppl:125-44.

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Kahler SG, Sherwood WG, Woolf D, Lawless ST, Zaritsky A, Bonham J, Taylor CJ, Clarke JT, Durie P, Leonard JV. Pancreatitis in patients with organic acidemias. J Pediatr. 1994 Feb; 124(2):239-43.

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Marks HG, Caro PA, Wang ZY, Detre JA, Bogdan AR, Gusnard DA, Zimmerman RA. Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan's disease: a case report. Ann Neurol. 1991 Jul; 30(1):106-10.

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Spaeth GL, Barber GW. Prevalence of homocystinuria among the mentally retarded: evaluation of a specific screening test. Pediatrics. 1967 Oct; 40(4):586-9.

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