{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:19:26Z","timestamp":1762100366644},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1978,6,19]],"date-time":"1978-06-19T00:00:00Z","timestamp":267062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1978,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A mentally retarded, 10\u2010year\u2010old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of \u03b1\u2010aminoadipic acid. Amino acid analyser studies and gas\u2010liquid chromatography\u2010mass spectrometry (GC\u2010MS) confirmed the presence of \u03b1\u2010aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of \u03b1\u2010ketoadipic acid in urine. Other known causes of \u03b1\u2010aminoadipic aciduria were eliminated by showing that levels of lysine, saccharopine and pipecolic acid in plasma and urine were normal and that the activity of glutaryl\u2010CoA dehydrogenase was also normal.<\/jats:p><jats:p>Loading with L\u2010lysine and L\u2010tryptophan both increased the concentration of \u03b1\u2010aminoadipic acid in blood and urine compatible with a primary deficiency of \u03b1\u2010ketoadipate dehydrogenase, in spite of the absence of \u03b1\u2010ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B<jats:sub>1<\/jats:sub> and B<jats:sub>6<\/jats:sub> were unsuccessful in correcting the biochemical abnormality.<\/jats:p>","DOI":"10.1007\/bf01805581","type":"journal-article","created":{"date-parts":[[2005,6,28]],"date-time":"2005-06-28T00:02:21Z","timestamp":1119916941000},"page":"129-135","source":"Crossref","is-referenced-by-count":19,"title":["Biochemical and clinical studies of a new case of \u03b1\u2010aminoadipic aciduria"],"prefix":"10.1002","volume":"1","author":[{"given":"R. E.","family":"Casey","sequence":"first","affiliation":[{"name":"Alvin Buckwold Centre, Department of Pediatrics University of Saskatchewan and University Hospital  Saskatoon Saskatchewan S7N 0W8 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. A.","family":"Zaleski","sequence":"additional","affiliation":[{"name":"Alvin Buckwold Centre, Department of Pediatrics University of Saskatchewan and University Hospital  Saskatoon Saskatchewan S7N 0W8 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Philp","sequence":"additional","affiliation":[{"name":"Alvin Buckwold Centre, Department of Pediatrics University of Saskatchewan and University Hospital  Saskatoon Saskatchewan S7N 0W8 Canada"},{"name":"3 Phillips Street Kensington 5068 South Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. S.","family":"Mendelson","sequence":"additional","affiliation":[{"name":"Alvin Buckwold Centre, Department of Pediatrics University of Saskatchewan and University Hospital  Saskatoon Saskatchewan S7N 0W8 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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