Faculty Information |
|
Article types | Case report |
Language | English |
Refereed paper | Refereed |
Title | Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening. |
Journal | Formal name:Pediatrics international : official journal of the Japan Pediatric Society Abbreviation:Pediatr Int ISSN code:1442-200X(Electronic)1328-8067(Linking) |
Domestic / Foregin | Foregin |
Volume, Number, Page | 60(1),pp.67-9 |
Papers・Author | Matsumoto Masaaki, Awano Hiroyuki, Bo Ryosuke, Nagai Masashi, Tomioka Kazumi, Nishiyama Masahiro, Ninchouji Takeshi, Nagase Hiroaki, Yagi Mariko, Morioka Ichiro, Hasegawa Yuki, Takeshima Yasuhiro, Iijima Kazumoto |
Publication date | 2018/01 |
Papers・Description | BACKGROUND:Glutaryl carnitine (C5DC) in dried blood spots is used as a biomarker for glutaric aciduria type 1 (GA-1) screening. C5DC, however, is the only screening marker for this condition, and various pathological conditions may interfere with C5DC metabolism. Recently, C5DC elevation has been reported in cases of renal insufficiency.METHOD:Five patients who were positive for GA-1 on newborn screening with tandemmass spectrometry between September 2012 and March 2015 at Kobe University Hospital were enrolled in this study.RESULTS:GA-1 was not confirmed on urinary organic acids analysis in any of the patients. C5DC decreased immediately in four patients, but one patient, who had high C5DC for at least 4 months, was diagnosed with bilateral renal hypoplasia.CONCLUSION:In the case of persistently elevated C5DC, renal insufficiency should be considered as a differential diagnosis. |
DOI | 10.1111/ped.13438 |
PMID | 29059480 |