Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: [Lancaster, Eng.] MTP Press.

2-Aminoadipic Acid/*analogs & derivatives ; Amino Acid Metabolism, Inborn Errors/*urine ; Coenzymes/*deficiency ; Metal Metabolism, Inborn Errors/*urine ; Metalloproteins/*deficiency ; Oxidoreductases Acting on Sulfur Group Donors/*deficiency; 2-Aminoadipic Acid/urine ; Adolescent ; Amino Acid Metabolism, Inborn Errors/metabolism ; Child ; Cysteine/analogs & derivatives ; Cysteine/pharmacology ; Humans ; Infant, Newborn ; L-Aminoadipate-Semialdehyde Dehydrogenase/antagonists & inhibitors ; Lysine/metabolism ; Metabolic Networks and Pathways ; Metal Metabolism, Inborn Errors/metabolism ; Models, Biological ; Molybdenum Cofactors ; Molybdoferredoxin/metabolism ; Molybdoferredoxin/urine ; Pteridines ; Sulfite Oxidase/deficiency ; Sulfite Oxidase/metabolism ; Sulfite Oxidase/urine ; Sulfites/pharmacology

Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro.

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0 (Coenzymes)
0 (Metalloproteins)
0 (Molybdenum Cofactors)
0 (Molybdoferredoxin)
0 (Pteridines)
0 (Sulfites)
1K7B1OED4N (2-Aminoadipic Acid)
425I4Y24YZ (allysine)
885F2S42LL (S-sulphocysteine)
ATN6EG42UQ (molybdenum cofactor)
EC 1.2.1.31 (L-Aminoadipate-Semialdehyde Dehydrogenase)
EC 1.8.- (Oxidoreductases Acting on Sulfur Group Donors)
EC 1.8.3.1 (SUOX protein, human)
EC 1.8.3.1 (Sulfite Oxidase)
K3Z4F929H6 (Lysine)
K848JZ4886 (Cysteine)

Molybdenum cofactor deficiency; Sulfite oxidase deficiency

Date Created: 20120310 Date Completed: 20130405 Latest Revision: 20211203

20240829

10.1007/s10545-012-9466-1

22403017