Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds, such as lactic acid and ammonia, to build up and damage organs and tissues. Loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, may contribute to the neurological features of pyruvate carboxylase deficiency.
Pyruvate carboxylase deficiency can lead to the accumulation of toxic compounds like lactic acid and ammonia, which damage organs and tissues. The loss of pyruvate carboxylase function in the nervous system, specifically its role in myelin formation and neurotransmitter production, is a key factor contributing to neurological symptoms seen in this condition.