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GALACTOSAEMIA

CHAPTER ONE

INTRODUCTION

1.1 Background of the Study

Galactosaemia is a rare genetic disorder characterized by the inability of the body to metabolize galactose, a simple sugar found primarily in milk and dairy products. The condition arises due to mutations in the genes responsible for producing enzymes that convert galactose into glucose, which is the body's primary source of energy (Chau et al., 2020). Specifically, the most common form of galactosaemia is classical galactosaemia, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). This enzyme deficiency leads to toxic levels of galactose and its metabolites in the body, which can result in severe health complications if not managed promptly (Klein et al., 2019). The prevalence of galactosaemia is estimated to be approximately 1 in 30,000 live births in many populations, with varying incidence rates based on ethnicity (Wang et al., 2021).

The clinical presentation of galactosaemia typically occurs after the ingestion of lactose-containing foods, particularly in newborns who are fed breast milk or formula. Symptoms may include jaundice, vomiting, poor feeding, lethargy, and hepatomegaly (McKeever et al., 2022). If left untreated, galactosaemia can lead to long-term complications such as intellectual disability, cataracts, and liver damage (Fenton et al., 2019). The early diagnosis and management of galactosaemia are crucial for preventing these adverse outcomes. Newborn screening programs have been implemented in many countries to detect galactosaemia early, allowing for dietary interventions that can significantly improve the quality of life and health outcomes for affected individuals (Sim et al., 2020).

Dietary management remains the cornerstone of treatment for galactosaemia. Individuals diagnosed with this condition are typically placed on a galactose-restricted diet, which involves avoiding lactose-containing foods, including milk, dairy products, and certain legumes (Hennermann et al., 2021). The use of soy-based or lactose-free formulas is often recommended for infants to ensure adequate nutrition while avoiding galactose intake. Despite these dietary restrictions, some individuals may still experience complications, including cognitive impairments and reproductive issues, highlighting the need for ongoing monitoring and support throughout their lives (Leen et al., 2023).

Research into the molecular mechanisms underlying galactosaemia has provided insights into potential therapeutic approaches, including enzyme replacement therapy and gene therapy. These innovative treatments aim to address the root cause of the enzyme deficiency, offering hope for more effective management strategies in the future (Hoffmann et al., 2023). Furthermore, advancements in understanding the metabolic pathways involved in galactose metabolism may pave the way for developing pharmacological agents that

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