Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia

• Published in: Zhong hua yi xue za zhi Vol. 93; no. 8; p. 561
• Main Authors: Wu, Sheng-nan, Han, Lian-shu, Ye, Jun, Qiu, Wen-juan, Zhang, Hui-wen, Gao, Xiao-lan, Wang, Yu, Li, Xiao-yan, Xu, Hao, Gu, Xue-fan
• Format: Journal Article
• Language: Chinese
• Published: China 26.02.2013
• Subjects: Acetylcarnitine - blood; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors - blood; Amino Acid Metabolism, Inborn Errors - urine; Carnitine - analogs & derivatives; Carnitine - blood; Case-Control Studies; Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Male; Methylmalonic Acid - urine; Tandem Mass Spectrometry; Young Adult
• ISSN: 0376-2491

To analyze the levels of methylmalonic acid and methylcitrate in urine, propionylcarnitine (C3) in plasma and C3/acetylcarnitine (C2) of patients with methylmalonic acidemia (MMA) and explore their applications in the diagnosis of MMA. From December 2003 to March 2012, a total of 162 patients with MMA (MMA group) and 200 healthy children (control group) of Xinhua Hospital, Shanghai Jiaotong University School of Medicine were recruited. MMA patients with a definite classification were divided into 2 groups: isolate MMA group (n = 51) and MMA complicated with homocysteinemia group (n = 65). Gas chromatography-mass spectrometry was used to measure the urine levels of methylmalonic acid and methylcitrate and tandem mass spectrometry to measure the blood levels of free carnitine (C0), acylcarnitines and methionine (Met). In the MMA group, the median levels of methylmalonic acid (259.10 (6.73 - 6429.28)), methylcitrate (4.39 (0 - 248.96)), C3 (8.52 (1.50 - 52.11) µmol/L) and C3/C2 (0.73(0.28 - 2.89)) were all highe