{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T16:33:20Z","timestamp":1760978000697},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,5,1]],"date-time":"2002-05-01T00:00:00Z","timestamp":1020211200000},"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":[[2002,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Propionic acidaemia (PCCD) or deficiency of propionyl\u2010CoA carboxylase (PCC) is one of the most common organic acidaemias. Recent studies have suggested that this disease can cause somatic or cognitive deterioration even in patients without ketosis or metabolic acidosis, or in cases with unusually late onset. This suggests that for this disease a sensitive yet practical screening procedure'is required to achieve early treatment. We conducted a pilot study of gas chromatographic\u2013mass spectrometric screening of 12 000 newborns for PCCD using eluates from dried filter\u2010paper urine collected at 4\u20137 days of age. Methylcitrate (MC) was targeted for PCCD. For bulk screening, 2\u2010hydroxyundecanoate was used as internal standard; for quantification, stable\u2010 isotope\u2010labelled MC was used. Urease pretreatment without fractionation allowed satisfactory recovery and reproducibility of the highly polar MC. We detected an asymptomatic male infant with distinctly elevated MC: the creatinine\u2010corrected level relative to 2\u2010hydroxyundecanoate was 4.8 SD above the normal mean. The MC concentration calculated using the stable\u2010isotope\u2010 labelled internal standard was 70.6 mmol\/mol creatinine 14.7 SD above the normal mean of 3.70. Parallel analysis of the dried blood spot at 4 days of age by tandem MS showed only borderline elevation of propionylcarnitine. The activity of PCC in lymphocytes was 7% of control. Gene analysis revealed that a single missense mutation, TAT to TGT, resulting in Y435C in the \u03b2 chain was present in a homozygous form. Dietary treatment including carnitine supplementation decreased this infant's MC level and to date (at 13 months of age), he shows no neurological or somatic abnormalities.<\/jats:p>","DOI":"10.1023\/a:1015620609075","type":"journal-article","created":{"date-parts":[[2003,3,15]],"date-time":"2003-03-15T13:06:09Z","timestamp":1047733569000},"page":"98-106","source":"Crossref","is-referenced-by-count":23,"title":["Gas chromatographic\u2013mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter\u2010paper urine samples"],"prefix":"10.1002","volume":"25","author":[{"given":"T.","family":"Kuhara","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Medical Research Institute Kanazawa Medical University  1\u20101 Daigaku Uchinada, Kahoku\u2010gun, Ishikawa 920\u20100293 Japan"},{"name":"Division of Human Genetics, Medical Research Institute Kanazawa Medical University  1\u20101 Daigaku Uchinada, Kahoku\u2010gun, Ishikawa 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Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Mitsubuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto City Hospital  Japan"},{"name":"Department of Pediatrics Kumamoto University School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Ishimatu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto City Hospital  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