Case Study An infant boy though apparently healthy at birth

Case Study: An infant boy, though apparently healthy at birth, displays failure to thrive and episodes of vomiting. The pregnancy was unremarkable. At 8 months the child is underweight, has small muscle mass, inability to hold head steady, and fatigues easily. The child is also displaying significant development delays. Laboratory results show persistent metabolic acidosos (pH 7-7.2, normal is 7.36-7.44), evelated blood lactic acid (9mmol/L, normal is 1-2 mmol/L), and blood pyruvate levels were also elevated. The patient was put on a diet severly restricted in carbohydrates and showed some improvment.

Question: Why does this defect cause the observed symptoms - developmental delay, poor muscle funcation, failure to thrive?

Solution

The deficiency in the enzyme; Pyruvate carboxylase, which is an inherited disorder causes lactic acid increase in the blood. High levels of lactic acid causes damage to the body\'s organs and tissues; in particular the nervous system leading to developmental delay which in turn will cause poor muscle functioning as muscle functioning is linked to nervous control leading to death.