Inborn Errors Of Metabolism

CHAPTER ONE

1.0    Introduction

1.1     Inborn errors of metabolism

1.2   Biochemical basis for hereditary metabolic diseases

CHAPTER TWO

2.0     Clinical manifestations and diagnosis of inborn error of Metabolism

2.1     Clinical manifestation in neonatal period and childhood

2.1.1  Acute metabolic encephalopathy

2.1.1.1 Hyperammonemia

2.1.1.2 Metabolic acidosis

2.1.1.3 Hypoglycemia

2.1.1.4 Jaundice and liver dysfunction

2.2     Clinical manifestation in adult

2.3     Diagnosis

CHAPTER THREE

3.0    Treatment of inborn errors of metabolism

CHAPTER FOUR

4.0     Conclusion and Recommendation

4.1     Conclusion

4.2     Recommendation

References

LIST OF FIGURES

Figure 1 – An integrated view of metabolic pathway

Figure 2 – Theoretical consequences of enzyme deficiency

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