Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan
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REVIEW
Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan Sumreena Mansoor*
Abstract Background: Metabolic disorders are heterogeneous group of genetic disorders that are responsible for significant neonatal and infant morbidity and mortality worldwide. In developing countries like Pakistan where infant mortality is high current population based studies are unable to gauge contribution of metabolic disorders in causing mortality and morbidity. It is essential to address this gap by a review of available scattered Pakistani data related to metabolic disorders specifically congenital hypothyroidism and inborn error of metabolism to calculate probable burden of these disorders. Main body: Unfortunately currently in Pakistan newborn screening which identifies these illnesses at birth as a preventive strategy are not available. For current review data was collected through a systematic search of published articles (including data related to screening in certain subgroups of patients admitted to pediatric/neonatal intensive care units, patients with developmental delay/mental retardation). Conclusion: The primary aim of this review was to get an estimate of the disease burden in the Pakistani population as true prevalence of Congenital Hypothyroidism and Inborn Errors of Metabolism in Pakistan is not available. This systematic review will help us to identify the rough idea about the scale of problem in Pakistan. Keywords: Metabolic disorders, Inborn errors of metabolism, Challenges, Pakistan Background Metabolic disorders like congenital hypothyroidism (CH) and inborn errors of metabolism (IEM) are considerable cause of disease and death among children in both the advance and developing nations of the world with the prevalence of CH is about 1 per 3000–4000 and IEM is 1 in 800–2500 births in West [1, 2]. Metabolic disorders are genetically inherited biochemical disorders of specific enzymes or proteins causing a block in a normal metabolic process of protein, carbohydrate or fat metabolism. Classification is challenging as it can occur in every biochemical pathway. Based on pathophysiology, there are three main sub groups of IEM; conditions that cause intoxication, conditions of energy metabolism *Correspondence: [email protected]; [email protected] Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-emillat university, H‑8/4, Islamabad, Pakistan
and conditions of complex molecules [3]. Severity of the symptoms experienced by affected individuals of IEM varies relying on the genetic and mutation history [4]. Due to absence of neonatal screening facilities in Pakistan children born with IEMs are usually diagnosed on the basis of clinical symptoms including lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. That makes it difficult to manage childhood morbidity and mortality due to these disorders in an effective manner. Multiple studies in selected scattered groups of Pakistani patients have confirmed the high prevalence of IEMs is
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