Pyruvate<unk>  is active in mitochondria in cells. It is involved in the generation of glucose through gluconeogenesis. By generating oxaloacetate, it catalyses an important anaplerotic reaction that maintains the citric acid cycle to generate energy by aerobic respiration. Pyruvate<unk>  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. Mutations in the<unk>  gene reduce the amount of pyruvate<unk>  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<unk>  allows potentially toxic compounds, such as lactic acid and ammonia, to build up and damage organs and tissues. Loss of pyruvate<unk>  function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, may contribute to the neurological features of<unk> .
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Glutaminase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Malonyl-CoA decarboxylase deficiency
Multiple carboxylase deficiency
Enolase deficiency
Hexokinase deficiency