TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY

Objective: To evaluate the analytical and diagnostic challenges in interpreting the various organic acid results by gas-chromatography-mass spectrometry and to devise a protocol for analysis that is beneficial for prompt interpretation and diagnosis. Study Design: Retrospective study. Place and...

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Autores principales:	Ayesha Hafeez, Asma Hayat, Javeria Hafeez, Saima Shakil Malik, Muhammad Tahir Khadim, Nisar Ahmed
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2018
Materias:	gas chromatography-mass spectrometry inherited metabolic disorders Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/11dc49da72954ba3a9be1bddf3383fbf
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spelling	oai:doaj.org-article:11dc49da72954ba3a9be1bddf3383fbf2021-12-01T03:21:42ZTWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY0030-96482411-8842https://doaj.org/article/11dc49da72954ba3a9be1bddf3383fbf2018-10-01T00:00:00Zhttps://www.pafmj.org/index.php/PAFMJ/article/view/2278/1975https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Objective: To evaluate the analytical and diagnostic challenges in interpreting the various organic acid results by gas-chromatography-mass spectrometry and to devise a protocol for analysis that is beneficial for prompt interpretation and diagnosis. Study Design: Retrospective study. Place and Duration of Study: Department of Chemical Pathology & Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, from Apr 2015 to May 2017. Material and Methods: We reviewed clinical data, biochemical investigations and urine organic acid profiles of 110 patients received for evaluation of a suspected organic acid disorder. Urine organic acid analysis was carried out by gas chromatography – mass spectrometry using Mass Hunter software. Results: A total of 104 (99%) cases received were from the pediatric patients and 7 (6.3%) from adult patients. A total of 11 different organic acidurias were diagnosed. Other diseases (n=10) were also detected on the basis of their pathognomics metabolites and included tyrosinemia type 1 (n=4), alkaptonuria (n=5) and ornithine transcarbamoylase deficiency (n=1). Twenty-eight (25%) urine samples were either recalled or repeated for reasons like random urine sample yielding negative profiles in setting of a strong suspicion for organic aciduria (n=6), non-availability of clinical data (n=12) or delay in transportation >8 hours (n=10). Raised non-specific organic acid metabolites were seen in 23 (21%) cases. Lactic acid and ketones were detectable in 12 (11%) samples in the absence of raised plasma levels. Conclusion: Urine OA profiles must be interpreted in context of complete clinical, nutritional and biochemical findings. Each laboratory equipped with this facility should devise their analytical protocols for meaningful interpretation of results.Ayesha HafeezAsma HayatJaveria HafeezSaima Shakil MalikMuhammad Tahir KhadimNisar AhmedArmy Medical College Rawalpindiarticlegas chromatography-mass spectrometryinherited metabolic disordersMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 68, Iss 5, Pp 1133-1137 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	gas chromatography-mass spectrometry inherited metabolic disorders Medicine R Medicine (General) R5-920
spellingShingle	gas chromatography-mass spectrometry inherited metabolic disorders Medicine R Medicine (General) R5-920 Ayesha Hafeez Asma Hayat Javeria Hafeez Saima Shakil Malik Muhammad Tahir Khadim Nisar Ahmed TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY
description	Objective: To evaluate the analytical and diagnostic challenges in interpreting the various organic acid results by gas-chromatography-mass spectrometry and to devise a protocol for analysis that is beneficial for prompt interpretation and diagnosis. Study Design: Retrospective study. Place and Duration of Study: Department of Chemical Pathology & Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, from Apr 2015 to May 2017. Material and Methods: We reviewed clinical data, biochemical investigations and urine organic acid profiles of 110 patients received for evaluation of a suspected organic acid disorder. Urine organic acid analysis was carried out by gas chromatography – mass spectrometry using Mass Hunter software. Results: A total of 104 (99%) cases received were from the pediatric patients and 7 (6.3%) from adult patients. A total of 11 different organic acidurias were diagnosed. Other diseases (n=10) were also detected on the basis of their pathognomics metabolites and included tyrosinemia type 1 (n=4), alkaptonuria (n=5) and ornithine transcarbamoylase deficiency (n=1). Twenty-eight (25%) urine samples were either recalled or repeated for reasons like random urine sample yielding negative profiles in setting of a strong suspicion for organic aciduria (n=6), non-availability of clinical data (n=12) or delay in transportation >8 hours (n=10). Raised non-specific organic acid metabolites were seen in 23 (21%) cases. Lactic acid and ketones were detectable in 12 (11%) samples in the absence of raised plasma levels. Conclusion: Urine OA profiles must be interpreted in context of complete clinical, nutritional and biochemical findings. Each laboratory equipped with this facility should devise their analytical protocols for meaningful interpretation of results.
format	article
author	Ayesha Hafeez Asma Hayat Javeria Hafeez Saima Shakil Malik Muhammad Tahir Khadim Nisar Ahmed
author_facet	Ayesha Hafeez Asma Hayat Javeria Hafeez Saima Shakil Malik Muhammad Tahir Khadim Nisar Ahmed
author_sort	Ayesha Hafeez
title	TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY
title_short	TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY
title_full	TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY
title_fullStr	TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY
title_full_unstemmed	TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY
title_sort	two years experience of analytical and diagnostic challenges in urine organic acid analysis on gas chromatography-mass spectrometry
publisher	Army Medical College Rawalpindi
publishDate	2018
url	https://doaj.org/article/11dc49da72954ba3a9be1bddf3383fbf
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TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY

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