Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients

Experimental Biology and Medicine
Chun-Ting LuLie Feng

Abstract

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS) and C-peptide (C-P) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further discuss the correlation between SLC25A13 genetic mutations and biochemical changes. Seventy-two cases of infants with cholestasis disease were gathered. Among them, 36 cases with NICCD diagnosis were case group. Meanwhile, 36 cases with unknown etiology but excluded NICCD were control group. FBG, FINS, C-P, ALT, AST, GGT, ALP, TG, HDL-C, LDL-C and Non-HDL-C were collected from all subjects, and DNA was extracted from venous blood for SLC25A13 mutations detection. The incidence of hypoglycemia was 3% in NICCD group. There were no significant statistical difference of FBG, FINS and C-P between NICCD and INC groups ( P > 0.05). ALT, LDL-C and Non-HDL-C levels in NICCD group were lower than the INC group, while SLC25A13 mutations were associated with the level of GGT ( P < 0.05). Ten different SLC25A13 genetic mutations were detected, among which, 851del4, IVS16ins3kb, IVS6+5 G > A and 1...Continue Reading

References

Dec 1, 1985·Archives of Disease in Childhood·D M Danks, A L Smith
Apr 3, 2001·Human Genetics·T OhuraT Saheki
May 9, 2001·The Journal of Pediatrics·Y TazawaT Saheki
Nov 1, 2002·Molecular Genetics and Metabolism·Efrat Ben-ShalomOrly Elpeleg
Dec 14, 2004·European Journal of Pediatrics·Momoko HachisuSachiko Kitanaka
Oct 4, 2005·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Takeyori SahekiShu-Ichi Ikeda
Jun 27, 2007·The Journal of Biological Chemistry·Takeyori SahekiTsuyoshi Kobayashi
Dec 29, 2007·Journal of Korean Medical Science·Jae Sung KoJeong Kee Seo
Jul 31, 2008·Journal of Pediatric Gastroenterology and Nutrition·Hung-Wen ChenMei-Hwei Chang
Feb 3, 2009·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Y-Z SongX-Y Zheng
Jan 15, 2010·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Akihiko KimuraTakeyori Saheki
Nov 19, 2011·The Tohoku Journal of Experimental Medicine·Xin-Jing ZhaoXiao-Min Xiao
Oct 17, 2012·BMC Gastroenterology·Suporn TreepongkarunaDuangrurdee Wattanasirichaigoon
Nov 1, 2012·World Journal of Gastroenterology : WJG·Jian-She WangKeiko Kobayashi
Aug 1, 2013·World Journal of Gastroenterology : WJG·Rui ChenJian-She Wang
Nov 11, 2014·Journal of Pediatric Endocrinology & Metabolism : JPEM·Hong WangDaoWen Wang
May 8, 2015·Neurology India·Sunita Bijarnia-MahayIshwar C Verma
Jun 26, 2015·World Journal of Gastroenterology : WJG·Mei-Hong ZhangJian-She Wang
Nov 11, 2016·Journal of Human Genetics·Seak Hee OhHan-Wook Yoo

❮ Previous
Next ❯

Citations

Apr 24, 2019·Animal Science Journal = Nihon Chikusan Gakkaihō·Jeong Hyo LeeByung-Chul Park

❮ Previous
Next ❯

Methods Mentioned

BETA
gene knockout
PCR
electrophoresis

Software Mentioned

SPSS

Related Concepts

Related Feeds

ApoE, Lipids & Cholesterol

Serum cholesterol, triglycerides, apolipoprotein B (APOB)-containing lipoproteins (very low-density lipoprotein (VLDL), immediate-density lipoprotein (IDL), and low-density lipoprotein (LDL), lipoprotein A (LPA)) and the total cholesterol/high-density lipoprotein (HDL) cholesterol ratio are all connected in diseases. Here is the latest research.

Related Papers

World Journal of Gastroenterology : WJG
Jian-she WangKeiko Kobayashi
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Ya-zhi XingXue-fan Gu
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Peng-qiang WenCheng-Rong Li
Zhonghua bing li xue za zhi Chinese journal of pathology
Guang-yu JiangKai-shan Liu
© 2022 Meta ULC. All rights reserved