Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling

• Published in: The Egyptian journal of medical human genetics Vol. 15; no. 1; pp. 69 - 78
• Main Authors: Ghoraba, Dina A., Mohamed, Magdy M., Zaki, Osama K.
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Elsevier B.V 01.01.2014; Egyptian Society of Human Genetics; Springer Nature B.V
• Subjects: Acylcarnitine; Chromatography; Diagnosis; Gas chromatography; High performance liquid chromatography; Metabolic syndrome; Organic aciduria; Tandem mass spectrometry; التشخيص; كروماتوغرافيا الغاز; Tandem mass spectrometry; FN; Acylcarnitine; FP; LC–MS/MS; MSUD; Organic aciduria; NKHG; HPLC; GA-1; MMA; CD; BKT; PGA; Q.MTD; Chromatography; PA; Gas chromatography; NA; CoA; IVA; UCD; TN; TP; GC/MS; High performance liquid chromatography
• ISSN: 1110-8630; 2090-2441
• DOI: 10.1016/j.ejmhg.2013.11.005

Organic acid disorders are a heterogeneous group of inborn errors of metabolism, in which organic acids accumulate in the body. They have high prevalence in Egypt because of a high rate of consanguineous marriages. Here we report our experience with the diagnostic evaluation of patients with organic acidemias as well as several other inborn errors of metabolism (IEMs) by liquid chromatography–tandem mass spectrometry (LC/MS–MS), gas-chromatography mass spectrometry (GC/MS) and by isocratic cation exchange “high-performance liquid-chromatography” (HPLC) to evaluate the use of HPLC method for disease-associated metabolite screening. In this study, we screened 86 suspected Egyptians patients with organic acid disorders by LC/MS–MS, GC/MS and by HPLC aged from 3days to 12years old. Data obtained from the three methods were statistically analyzed to evaluate the specificity and sensitivity of the HPLC method over the other two methods and to pursue its precision in the diagnosis of organic acid disorders. Moreover, 17 urine samples were collected from patients with several other IEMs to evaluate the efficiency of HPLC in detecting abnormal metabolites in urine samples. The screening results showed that diagnostic efficiencies were varied among the three methods, HPLC showing a higher sensitivity of detecting normal urine as well as a highly satisfactory extent for the detection of different metabolic disorders. In addition, some typical urinary HPLC chromatograms of different metabolic disorders were presented to help the investigator who is going to start an organic aciduria screening program by HPLC to be familiar with various patterns. This study has indicated that HPLC is an easy applicable and useful technique for the initial screening of organic acid disorders and many other disease associated metabolites.