title: Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
abstract: 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.
authors.affiliation: Clinical and Molecular Genetics Unit, Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, WC1N 1EH, UK. p.mills@ucl.ac.uk
authors.forename: Philippa B
authors.initials: PB
authors.lastname: Mills
authors.forename: Emma J
authors.initials: EJ
authors.lastname: Footitt
authors.forename: Serkan
authors.initials: S
authors.lastname: Ceyhan
authors.forename: Paula J
authors.initials: PJ
authors.lastname: Waters
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
mesh_terms: D015074:2-Aminoadipic Acid / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000652:urine*; D002648:Child; D003067:Coenzymes / Q000172:deficiency*; D003545:Cysteine / Q000031:analogs & derivatives / Q000494:pharmacology; D006801:Humans; D007231:Infant, Newborn; D050647:L-Aminoadipate-Semialdehyde Dehydrogenase / Q000037:antagonists & inhibitors; D008239:Lysine / Q000378:metabolism; D053858:Metabolic Networks and Pathways; D008664:Metal Metabolism, Inborn Errors / Q000378:metabolism / Q000652:urine*; D008667:Metalloproteins / Q000172:deficiency*; D008954:Models, Biological; D000090006:Molybdenum Cofactors; D008983:Molybdoferredoxin / Q000378:metabolism / Q000652:urine; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D011621:Pteridines; D050876:Sulfite Oxidase / Q000172:deficiency / Q000378:metabolism / Q000652:urine; D013447:Sulfites / Q000494:pharmacology
chemical_list: D015074:2-Aminoadipic Acid; D003067:Coenzymes; D003545:Cysteine; D050647:L-Aminoadipate-Semialdehyde Dehydrogenase; D008239:Lysine; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D008983:Molybdoferredoxin; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D050876:Sulfite Oxidase; D013447:Sulfites; C000061:allysine; C011119:S-sulphocysteine; C022261:molybdopterin; C503599:SUOX protein, human