[4] Pyruvate carboxylase also plays a role in the formation of the myelin sheath that surrounds certain nerve cells, and the production of neurotransmitters for communication between neurons.

[citation needed] Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity.

The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria.

Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds, such as lactic acid and ammonia, to build up and damage organs and tissues.

Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing.

[citation needed] Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth.

[citation needed] Pyruvate carboxylase deficiency treatment typically consists of providing the body with alternate sources of energy (anaplerotic therapy).