CHAPTER ONE
INTRODUCTION
1.1 Background of the Study
Inborn errors of metabolism (IEMs) are a diverse group of genetic disorders characterized by abnormal chemical reactions in the body's metabolism, typically due to the absence or malfunction of specific enzymes. These rare conditions can affect the metabolism of carbohydrates, amino acids, fatty acids, and other substances essential for growth and development (Kumar et al., 2020). IEMs are generally caused by genetic mutations that disrupt the normal metabolic pathways, leading to a range of clinical manifestations that can be severe, often beginning in infancy or early childhood (Koç et al., 2021).
The concept of inborn errors of metabolism was first introduced by Archibald Garrod in the early 20th century, emphasizing the link between genetic defects and metabolic diseases (Garrod, 1908). He proposed that metabolic disorders are caused by inherited defects in enzymes that are critical for biochemical reactions. This foundational understanding has led to significant advances in diagnosing and treating IEMs, allowing for improved patient outcomes through early detection and intervention (Scriver, 2016).
Recent advancements in genetic testing, including next-generation sequencing, have facilitated the identification of new IEMs and the characterization of their underlying genetic causes (Peters et al., 2019). This technological progress has revolutionized the field of metabolic medicine, enabling clinicians to provide precise diagnoses and personalized treatment plans for affected individuals (Pérez-Cerda et al., 2020). However, despite these advancements, many IEMs remain underdiagnosed or misdiagnosed due to their heterogeneous presentations and the variability in symptoms, which can range from mild to life-threatening (Baker et al., 2018).
IEMs can lead to various complications, including developmental delays, neurological deficits, and metabolic crises, which can be fatal if not promptly managed (Zschocke et al., 2020). Early diagnosis and intervention are critical for managing these disorders, as they can significantly improve the quality of life
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