Chapter 5.5, Problem 1GR

Summary Introduction

To determine: The possibility of mutation in the pathway of folate synthesis to cause Spina bifida (SB) in the absence of folate-fortified foods.

Introduction: SB is a complex birth defect that involves neural tube (important for the brain and spinal cord development) defects in the individual. The affected individuals suffer from muscle imbalance, crippling deformities, and even paralysis in some cases. The defect is caused by the mutation in the gene $VANG{L}_1$. A folate-rich diet reduces the severity of the defect and its incidence by 70%.