EXPORT CITATION

Chapter-34 Inborn Errors of Metabolism (IEM) Algorithm

BOOK TITLE: IAP Textbook of Pediatric ICU Protocols

Author
1. Khilnani Praveen
2. Khadse Suchita
ISBN
9789350903704
DOI
10.5005/jp/books/11878_34
Edition
2/e
Publishing Year
2013
Pages
2
Author Affiliations
1. Max Hospitals, Press Enclave, Saket, New Delhi, India, Rainbow Children’s Hospital, New Delhi, India, Madhukar Rainbow Children’s Hospital, New Delhi, India, Pediatric Intensivist, IP Apollo Hospital, New Delhi B-42, Panchsheel Enclave, New Delhi 110017, BLK Superspeciality Hospital, New Delhi, India; PICU Mediclinic City Hospital, Dubai, UAE, for IAP and ISCCM; BLK Super Speciality Hospital, New Delhi, India, BLK Super Speciality Hospital, New Delhi, India, Max and BLK Hospitals, New Delhi, India, BLK Superspeciality Hospital, New Delhi, BLK Superspeciality Hospital, New Delhi, India, Max Hospital, New Delhi, MAX Superspeciality Hospital, New Delhi, Apollo Centre for Advanced Pediatrics, Indraprastha Apollo Hospital, New Delhi, e-mail: praveenk@nde.vsnl.net.in, Apollo Hospital, New Delhi, Max Hospitals, New Delhi, India, Pediatric Pulmonology and Critical Care, Max Healthcare Hospitals, Saket, New Delhi and Gurgaon (Haryana)
2. Central India’s Child Hospital and Research Institute, Nagpur, Maharashtra, India, Child Hospital, Nagpur, Maharashtra, India, Nelson Children's Hospital, Nagpur, Maharashtra, India
Chapter keywords
Inborn error of metabolism, Hyperammonemia, Hypoglycemia, Hyponatremia, IV D10, Metabolic acidosis, Increased anion gap

Abstract

In infants with inborn error of metabolism (IEM), symptoms like lethargy, coma, seizures, sepsis, mental retardation, hyperammonemia and hypoglycemia are seen. Principles of treatment lie in correcting acidosis and ventilatory abnormalities; and preventing hyponatremia, cerebral edema, catabolism and infection. If IEM is noticed in infants, then measures such as stopping milk feeds, using supplement substrates, administration of intravenous D10 with electrolytes, checking for anion gap and biopsy of skin, liver and muscle are taken to ensure proper management.

Related Books

© 2019 Jaypee Brothers Medical Publishers (P) LTD.   |   All Rights Reserved