Testing Modalities for Inborn Errors of Metabolism - What a Clinician Needs to Know?

Author information

1: Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Correspondence to: Dr Sunita Bijarnia-Mahay, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India. bijarnia@gmail.com.
2: Division of Genetics, Department of Pediatrics, Maulana Azad Medical College and associated Lok Nayak Hospital, New Delhi, India.

Abstract

The present century is being hailed as the century for genetic therapies, and inborn errors of metabolism is leading the way. As we gear ourselves for treating children with genetic and metabolic disorders, the key is to recognize them early and accurately for best outcomes. In these changing times with advent of technology, clinicians are now more aware, exposed and well equipped with the armamentarium of diagnostic modalities. However, it is difficult to choose between the tests without a baseline knowledge about testing for genetic and metabolic disorders. The key question for a clinician when dealing with a suspected metabolic disorder case is 'what test to order' and 'how to proceed.' The current article provides a rational view on the various laboratory testing modalities available for diagnosis of inborn errors of metabolism. The article provides details of the basic and advanced metabolic tests that can be ordered in appropriate settings.