Your browser doesn't support javascript.
loading
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
Sarker, Suprovath Kumar; Islam, Md Tarikul; Biswas, Aparna; Bhuyan, Golam Sarower; Sultana, Rosy; Sultana, Nusrat; Rakhshanda, Shagoofa; Begum, Mst Noorjahan; Rahat, Asifuzzaman; Yeasmin, Sharmina; Khanam, Mowshori; Saha, Asim Kumar; Noor, Farjana Akther; Sajib, Abu A; Islam, Abul B M M K; Qadri, Syeda Kashfi; Shahidullah, Mohammod; Mannan, Mohammad Abdul; Muraduzzaman, A K M; Shirin, Tahmina; Rahman, Sheikh Maksudur; Qadri, Syed Saleheen; Saha, Narayan; Akhteruzzaman, Sharif; Qadri, Firdausi; Mannoor, Kaiissar.
Affiliation
  • Sarker SK; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Islam MT; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka 1000, Bangladesh.
  • Biswas A; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Bhuyan GS; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Sultana R; Infectious Diseases Laboratory, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Sultana N; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Rakhshanda S; Bangladesh University of Health Sciences, Bangladesh.
  • Begum MN; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Rahat A; Department of Virology, Dhaka Medical College, Dhaka 1000, Bangladesh.
  • Yeasmin S; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Khanam M; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Saha AK; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka 1000, Bangladesh.
  • Noor FA; Infectious Diseases Laboratory, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Sajib AA; Department of Gynecology & Obstetrics, Bangladesh Institute of Health Sciences General Hospital, 125/1, Darus Salam, Mirpur-1, Dhaka 1216, Bangladesh.
  • Islam ABMMK; Ain Shams General Hospital and Diagnostic Centre Pvt. Ltd., Vhushir Mill, Sign Board, Gazipur, Bangladesh.
  • Qadri SK; Narsingdi Sadar Hospital, Raipur, Narsingdi, Bangladesh.
  • Shahidullah M; Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives, Mohakhali, Dhaka 1212, Bangladesh.
  • Mannan MA; Department of Biochemistry and Molecular Biology, University of Dhaka, Bangladesh.
  • Muraduzzaman AKM; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka 1000, Bangladesh.
  • Shirin T; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka 1000, Bangladesh.
  • Rahman SM; Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
  • Qadri SS; Department of Neonatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh.
  • Saha N; Department of Neonatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh.
  • Akhteruzzaman S; Department of Virology, Institute of Epidemiology, Disease Control and Research, Mohakhali, Dhaka, Bangladesh.
  • Qadri F; Department of Virology, Institute of Epidemiology, Disease Control and Research, Mohakhali, Dhaka, Bangladesh.
  • Mannoor K; Research and Development, Incepta chemicals Ltd., Barabaria, Saturia, Dhankora, Dhaka 1810, Bangladesh.
Biomed Res Int ; 2019: 3460902, 2019.
Article in En | MEDLINE | ID: mdl-30723736
Liquid Chromatography tandem mass spectrometry (LC-MS/MS) is used for the diagnosis of more than 30 inborn errors of metabolisms (IEMs). Accurate and reliable diagnosis of IEMs by quantifying amino acids (AAs) and acylcarnitines (ACs) using LC-MS/MS systems depend on the establishment of age-specific cut-offs of the analytes. This study aimed to (1) determine the age-specific cut-off values of AAs and ACs in Bangladesh and (2) validate the LC-MS/MS method for diagnosis of the patients with IEMs. A total of 570 enrolled healthy participants were divided into 3 age groups, namely, (1) newborns (1-7 days), (2) 8 days-7 years, and (3) 8-17 years, to establish the age-specific cut-offs for AAs and ACs. Also, 273 suspected patients with IEMs were enrolled to evaluate the reliability of the established cut-off values. Quantitation of AAs and ACs was performed on an automated LC-MS/MS system using dried blood spot (DBS) cards. Then the specimens of the enrolled clinically suspected patients were analyzed by the established method. Nine patients came out as screening positive for different IEMs, including two borderline positive cases of medium-chain acyl-CoA dehydrogenase deficiency (MCAD). A second-tier test for confirmation of the screening positive cases was conducted by urinary metabolic profiling using gas chromatography- mass spectrometry (GC-MS). Out of 9 cases that came out as screening positive by LC-MS/MS, seven cases were confirmed by urinary GC-MS analysis including 3 cases with phenylketonuria, 1 with citrullinemia type II, 1 with methylmalonic acidemia, 1 with isovaleric acidemia and 1 with carnitine uptake defect. Two borderline positive cases with MCAD were found negative by urinary GC-MS analysis. In conclusion, along with establishment of a validated LC-MS/MS method for quantitation of AAs and ACs from the DBS cards, the study also demonstrates the presence of predominantly available IEMs in Bangladesh.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Age Factors / Amino Acids / Metabolism, Inborn Errors Type of study: Diagnostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Biomed Res Int Year: 2019 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Age Factors / Amino Acids / Metabolism, Inborn Errors Type of study: Diagnostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Biomed Res Int Year: 2019 Document type: Article Affiliation country: Country of publication: