Amino Acid Profile and Lactate Pyruvate Ratio: Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism

Prajna P. Shetty, K. Nagendra, K. Nalini, Pragna Rao, Nalini Bhaskaranand, Vijetha Shenoy Belle

Research output: Contribution to journalArticle

Abstract

Inborn errors of metabolism (IEM) lead to the physical and mental disability and death of infants, which can be prevented if treated early. Hence it is imperative in diagnosing these disorders at the earliest. The study is planned to differentiate suspected IEM by quantifying the lactate–pyruvate ratio (L/P ratio), Amino acid profiling by HPLC in addition to blood ammonia using the basic methodology in comparison to globally accepted mass spectroscopy technique and specific enzyme activity assays. The objective of this study is not to compete with the existing gold standard methodology rather makes the best of basic diagnostic modalities available. Five cases out of 100 referred cases of IEM suspicion showed the altered pattern of Aminogram correlating with high L/P ratio and Hyperammonemia, which were positive cases, as confirmed by the clinician who referred. Hence study parameters could be used as preliminary protocol to investigate and screen the IEM.

Original languageEnglish
JournalIndian Journal of Clinical Biochemistry
DOIs
Publication statusAccepted/In press - 01-01-2019

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Inborn Errors Metabolism
Pyruvic Acid
Metabolism
Lactic Acid
Amino Acids
Hyperammonemia
Enzyme Assays
Enzyme activity
Ammonia
Assays
Mass Spectrometry
Blood
High Pressure Liquid Chromatography
Spectroscopy

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

Cite this

Shetty, Prajna P. ; Nagendra, K. ; Nalini, K. ; Rao, Pragna ; Bhaskaranand, Nalini ; Belle, Vijetha Shenoy. / Amino Acid Profile and Lactate Pyruvate Ratio : Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism. In: Indian Journal of Clinical Biochemistry. 2019.
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Amino Acid Profile and Lactate Pyruvate Ratio : Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism. / Shetty, Prajna P.; Nagendra, K.; Nalini, K.; Rao, Pragna; Bhaskaranand, Nalini; Belle, Vijetha Shenoy.

In: Indian Journal of Clinical Biochemistry, 01.01.2019.

Research output: Contribution to journalArticle

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T2 - Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism

AU - Shetty, Prajna P.

AU - Nagendra, K.

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AB - Inborn errors of metabolism (IEM) lead to the physical and mental disability and death of infants, which can be prevented if treated early. Hence it is imperative in diagnosing these disorders at the earliest. The study is planned to differentiate suspected IEM by quantifying the lactate–pyruvate ratio (L/P ratio), Amino acid profiling by HPLC in addition to blood ammonia using the basic methodology in comparison to globally accepted mass spectroscopy technique and specific enzyme activity assays. The objective of this study is not to compete with the existing gold standard methodology rather makes the best of basic diagnostic modalities available. Five cases out of 100 referred cases of IEM suspicion showed the altered pattern of Aminogram correlating with high L/P ratio and Hyperammonemia, which were positive cases, as confirmed by the clinician who referred. Hence study parameters could be used as preliminary protocol to investigate and screen the IEM.

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