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.
Keywords: Amino-acid profile; Hyperammonemia; Inborn errors of metabolism; Lactate–pyruvate ratio; Mitochondrial disorder.
© Association of Clinical Biochemists of India 2019.