57102

57103

57104

57105

57106

57107

57108

57109

HATA, I

NAITO, E

NAKATSU, T

SHICHIJO, K

SHIGEMATSU, Y

TANAKA, Y

UMEMOTO, T

YOSHIDA, T

English

University of Fukui Repository

SHORT-CHAIN 3-HYDROXYACYL-COADEHYDROGENASE (SCHAD) DEFICIENCY ANDNEWBORN SCREENING BY TANDEM MASSSPECTROMETRY言語: English出版者: 公開日: 2009-05-18キーワード (Ja): キーワード (En): 作成者: SHIGEMATSU, Y, HATA, I, TANAKA, Y,SHICHIJO, K, UMEMOTO, T, NAKATSU, T, YOSHIDA, T,NAITO, Eメールアドレス: 所属: メタデータhttp://hdl.handle.net/10098/2046URLSHORT-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE (SCHAD) DEFICIENCY AND NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY Y Shigematsu1, I Hata1, Y Tanaka2, K Shichijo3, T Umemoto3, T Nakatsu3, T Yoshida3, E Naito4 1Department of Pediatrics, 2Centers for Advanced Research Support, University of Fukui; 3Division of Pediatrics, Tokushima Red Cross Hospital; 4Division of Pediatrics, Tokushima Red Cross Hinomine Medical and Rehabilitation Center, Japan.  In a newborn screening by tandem mass spectrometry in Japan, SCHAD deficiency was not a target disorder, but was tentatively monitored using markers such as C4-hydroxyacylcarnitine (C4OH) (cut-off value; 0.23 nmol/ml) and a C4OH/acetylcarnitine (C2) ratio (cut-off value; 0.011). A Japanese girl was born with a birth weight of 1,230 g and a gestation age of 31 weeks. Acylcarnitine analysis in the first dried blood spot (DBS), which was made on day 49 after respirator therapy for respiratory distress, showed increased levels of C4OH (0.72 nmol/ml), C4OH/C2 (0.028), and glutarylcarnitine (C5DC) (0.28 nmol/ml, cut-off; 0.25). Because of the decreased level of C5DC (0.22 nmol/ml) in the second DBS on day 63, additional DBSs were not requested, although levels of C4OH (0.48 nmol/ml) and C4OH/C2 (0.026) were still increased. Because of several episodes of convulsion since 5 months of age and hypoglycemia (22 mg/dl) at 7 months of age, the patients had laboratory work-up, which indicated increased insulin levels during hypoglycemia. Serum acylcarnitines analysis revealed increased levels of C4OH, C4OH/C2, and C5DC, and urinary organic acid analysis showed increased excretion of 3-hydroxyglutaric acid. The patient did not experience hypoglycemia after diazoxide therapy. The diagnosis of SCHAD deficiency was confirmed by DNA analysis. The present case indicates that the markers mentioned above may be useful for the screening of SCHAD deficiency and should be tested further. 

SHORT-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE (SCHAD) DEFICIENCY AND NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY

https://u-fukui.repo.nii.ac.jp/record/19812/files/SSIEMabstract08r.pdf

SHORT-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE (SCHAD) DEFICIENCY AND NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY

Abstract

Similar works

Full text

Available Versions

University of Fukui Repository