Inborn errors of metabolism: a three-year experience

Abstract

INTRODUCTION: The deficiency or absence of an enzyme or cofactor in the metabolic pathway leads to the formation or accumulation of a specific metabolite resulting in inborn errors of metabolism (IEM).The neonate who is, usually, born healthy at birth, will present symptoms such as a reduced activity, nutritional disorders, difficulty in breathing, changes in consciousness, or seizures within hours or days after birth.Since these symptoms are not specific to IEM, a high degree of clinical suspicion is essential in diagnosing and treating the disease and to prevent complications and death.The aim of this study was to evaluate the clinical and biochemical characteristics of neonates diagnosed with IEM. METHODS: Neonates who presented to the Neonatal Intensive Care Unit of X Hospital between 01.02.2015 and 01.02.2018 were included.Demographic and clinical features and laboratory findings of the neonates were retrieved from patients' records. RESULTS: Thirty-three patients with IEM were enrolled into the study.The median birth weight was 3000(interquartile range: 2865-3300) gr, the median gestational week was 39(interquartile range: 38 to 40). The most common presenting complaints were nutritional disorders and tachypnea with a rate of 45.5% which were followed by transaminase elevation(36.4%), hyperammonemia(36.4%), metabolic acidosis(33.3%) and hypoglycemia(27.3%).The most common diagnoses were galactosemia(21.2%), Zellweger syndrome(9.1%) and non-ketotic hyperglycinemia(9.1%).Overall, 64.7% of the patients were discharged with corrected laboratory values. DISCUSSION AND CONCLUSION: Nonspecific symptoms such as nutritional disorders, tachypnea, and jaundice, or nonspecific laboratory abnormalities such as metabolic acidosis or transaminase elevation should alert the physician for IEMs, particularly in countries where the prevalence of consanguineous marriages is high, such as Turkey.

Keywords

• zellweger syndrome
• nonketotic hyperglycinemia
• newborn
• hyperammonemia