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2-aminoadipic acid and Metal Metabolism, Inborn Errors

2-aminoadipic acid has been researched along with Metal Metabolism, Inborn Errors in 3 studies

2-Aminoadipic Acid: A metabolite in the principal biochemical pathway of lysine. It antagonizes neuroexcitatory activity modulated by the glutamate receptor, N-METHYL-D-ASPARTATE; (NMDA).
2-aminoadipic acid : An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine.

Metal Metabolism, Inborn Errors: Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

ExcerptRelevanceReference
"α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition."7.78Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012)
"α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition."3.78Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ferrer-López, I1
Ruiz-Sala, P1
Merinero, B1
Pérez-Cerdá, C1
Ugarte, M1
Mills, PB1
Footitt, EJ1
Ceyhan, S1
Waters, PJ1
Jakobs, C1
Clayton, PT1
Struys, EA2
Nota, B1
Bakkali, A1
Al Shahwan, S1
Salomons, GS1
Tabarki, B1

Other Studies

3 other studies available for 2-aminoadipic acid and Metal Metabolism, Inborn Errors

ArticleYear
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2014, Jan-01, Volume: 944

    Topics: 2-Aminoadipic Acid; Adolescent; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Infant;

2014
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6

    Topics: 2-Aminoadipic Acid; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Coenzymes; Cysteine; Hu

2012
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
    Pediatrics, 2012, Volume: 130, Issue:6

    Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Brain; Child, Preschool; Consanguinity; Developmental Di

2012