Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

Inborn Errors of Metabolism in Pediatric Intensive Care Unit: Much More to Understand

We would like to thank you for the opportunity to respond to Dr. Puspraj Awasthi and Dr. Suresh Angurana's letter. We would also like to thank Dr. Puspraj Awasthi and Dr. Suresh Angurana for their interest in our article and for their comments.[1]

In their letter to the editor, the authors mentioned that in India there is no universal screening for inborn errors of metabolism (IEM) and in some regions there is lack of testing facilities. In fact, our setting is quite different, as in Portugal the universal screening is free and was started in 1979 with phenylketonuria screening. It currently includes 24 IEMs, cystic fibrosis, and congenital hypothyroidism. In addition, our center is a referral hospital for metabolic disorders. As we mentioned in our paper,[2] our admission rate of IEM is similar to other specialized centres[3] and therefore slightly higher than in the studies mentioned by the authors.[4] [5] We agree with the authors that our lower mortality rates are probably related to an extensive newborn screening, concentration of patients in a major center, and availability of specialized human and technical resources. Certainly, neonatal screening and treatment in specialized centers are fundamental for the management of these highly complex patients.

Publication History

Received: 11 March 2021

Accepted: 16 April 2021

Article published online:
29 June 2021

• References

• 1 Awasthi P, Angurana SK. et al. Inborn errors of metabolism in pediatric intensive care unit: much more to understand. J Pediatr Intensive Care 2021; 11 (04) 355-358
• 2 Lipari P, Shchomak Z, Boto L. et al. Inborn errors of metabolism in a tertiary pediatric intensive care unit. J Pediatr Intensive Care 2022; 11 (03) 183-192
• 3 Jouvet P, Touati G, Lesage F. et al. Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit. Eur J Pediatr 2007; 166 (05) 461-465
• 4 Kamate M, Chetal V, Kulgod V, Patil V, Christopher R. Profile of inborn errors of metabolism in a tertiary care centre PICU. Indian J Pediatr 2010; 77 (01) 57-60
• 5 Sivaraman RP, Balakrishnan U, Chidhambaram S, Tarikare S, Sankaranarayanan S. Profile and outcome of children with inborn errors of metabolism in a tertiary pediatric intensive care unit in South India. Indian J Child Health (Bhopal) 2019; 6 (03) 104-109