Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children

作者：El Mesellamy H; Gouda A S^*; Fateen E; Zaki S S

来源：Bratislava Medical Journal, 2014, 115(5): 300-306.

DOI：10.4149/BLL_2014_061

• inborn errors of metabolism
• fatty acid oxidation disorders
• acylcarnitine profile
• LC/MS/MS

Acylcarnitine profile (ACP) is a useful tool in the biochemical diagnosis and monitoring of many acquired and inherited metabolic disorders. In the present study, acylcarnitines (ACs) were quantified in dried blood spot samples collected from 150 high risk Egyptian newborns and children using LC/MS/MS technique. They were referred to the Biochemical Genetics department in the National Research Center. Their age ranged from 1 to 36 months. Thirty seven patients had abnormal ACP diagnostic of some inherited metabolic disorders and other acquired conditions. The study revealed 5 (13.5 %) with medium chain acyl CoA dehydrogenase deficiency (MCADD), 1 (2.7 %) with long chain hydroxyacyl CoA dehydrogenase deficiency (LCHADD), 1 (2.7 %) with multiple acyl CoA dehydrogenase deficiency (MADD), 28 (75.7 %) with secondary carnitine deficiency (SCD), 1 (2.7 %) with glutaric aciduria type I (GA I), and 1 (2.7 %) with methylmalonic aciduria (MMA) (Tab. 8, Ref. 39). Text in PDF www.elis.sk.

• 出版日期2014