Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis-Reference-Cited by-同舟云学术

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis

Published:2015 Issue:3 Volume:237 Page:235-239
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Kato Sayaka¹,Nakajima Yoko²,Awaya Risa³,Hata Ikue⁴,Shigematsu Yosuke⁵,Saitoh Shinji¹,Ito Tetsuya²

Affiliation:

1. Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences

2. Department of Pediatrics, Fujita Health University School of Medicine

3. Department of Pediatrics, Japanese Red Cross Nagoya Daini Hospital

4. Department of Pediatrics, University of Fukui Faculty of Medical Sciences

5. Department of Health Science, University of Fukui Faculty of Medical Sciences

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://www.jstage.jst.go.jp/article/tjem/237/3/237_235/_pdf

Reference14 articles.

1. Baker, L. & Winegrad, A.I. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet, 2, 13-16.

2. Burlina, A.B., Poletto, M., Shin, Y.S. & Zacchello, F. (1990) Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency. J. Inherit. Metab. Dis., 13, 263-266.

3. Douillard, C., Mention, K., Dobbelaere, D., Wemeau, J.L., Saudubray, J.M. & Vantyghem, M.C. (2012) Hypoglycaemia related to inherited metabolic diseases in adults. Orphanet J. Rare Dis., 7, 26.

4. Dremsek, P.A., Sacher, M., Stögmann, W., Gitzelmann, R. & Bachmann, C. (1985) Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test. Eur. J. Pediatr., 144, 203-204.

5. Hasegawa, Y., Kikawa, Y., Miyamaoto, J., Sugimoto, S., Adachi, M., Ohura, T. & Mayumi, M. (2003) Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency. Pediatr. Int., 45, 5-9.

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