Amino Acid Profile and Lactate Pyruvate Ratio: Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism
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ORIGINAL RESEARCH ARTICLE
Amino Acid Profile and Lactate Pyruvate Ratio: Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism Prajna P. Shetty1 • K. Nagendra2 • K. Nalini1 Nalini Bhaskaranand3 • Vijetha Shenoy Belle1
•
Pragna Rao1
•
Received: 7 November 2018 / Accepted: 15 June 2019 Ó Association of Clinical Biochemists of India 2019
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 & K. Nalini [email protected] Prajna P. Shetty [email protected] K. Nagendra [email protected] Pragna Rao [email protected] Nalini Bhaskaranand [email protected] Vijetha Shenoy Belle [email protected] 1
Department of Biochemistry, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India
2
Department of Biochemistry, Karwar Institute of Medical Sciences, Karwar 581301, India
3
Hitech Medicare Hospital, Udupi 576103, India
confirmed by the clinician who referred. Hence study parameters could be used as preliminary protocol to investigate and screen the IEM. Keywords Inborn errors of metabolism Lactate–pyruvate ratio Amino-acid profile Hyperammonemia Mitochondrial disorder
Introduction Inborn errors of metabolism are the group of congenital disorders where mostly defect lies in a single gene coding for an enzyme. This defect leads to block in the normal metabolic pathway which in turn leads to the toxic accumulation of the intermediates or deficiency of essential intermediates. This toxic accumulation or deficiency of intermediates alters the physical and mental health of the infants, if not treated timely. There are different types of IEM disorders, to name a few-amino acid disorders, urea cycle disorders, disorders of carbohydrate metabolism, Lysosomal storage, and mitochondrial disorders. Most of the symptoms of these disorders like poor feeding, vomiting, failure to thrive, developmental delay and diarrhea overlap with other IEM and also non-IEM disorders. This makes the first line of suspicion for IEM difficult. The other challenge is availability and viability of worldwide accepted diagnostic modalities like tandem mass spectra techniques; whole genome sequencing and specific enzyme assay to screen and confirm IEM in India where the concept of
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