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