Children with pyruvate carboxylase deficiency type A typically survive only into early childhood.

An example of a moonlighting enzyme is pyruvate carboxylase.

Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.

The PC gene provides instructions for making an enzyme called pyruvate carboxylase.

Pyruvate carboxylase deficiency is inherited as an autosomal recessive genetic condition.

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

Mutations in the PC gene cause pyruvate carboxylase deficiency.

Pyruvate carboxylase deficiency is an inherited metabolic disorder where anaplerosis is greatly reduced.

Carboxylation by pyruvate carboxylase produces oxaloacetate.

A deficiency of pyruvate carboxylase can cause lactic acidosis as a result of lactate build up.

Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms.

This reaction also requires one molecule of ATP, and is catalyzed by pyruvate carboxylase.

However, organic prosthetic groups can be covalently bound (e.g., biotin in the enzyme pyruvate carboxylase).

Pseudomonas citronellolis is a Gram-negative bacterium that is used to study the mechanisms of pyruvate carboxylase.

As a key role of gluconeogenesis is in the maintenance of blood sugar, deficiency of pyruvate carboxylase can also lead to hypoglycemia.

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood.

In contrast, the diseases pyruvate carboxylase deficiency, porphyria and other rare genetic disorders of fat metabolism prevent any use of the diet.

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

Another tether is biotin- lysine residue complex associated with pyruvate carboxylase, an enzyme which plays an importqnt role in gluconeogenesis.

During gluconeogenesis, pyruvate carboxylase is involved in the synthesis of phosphoenolpyruvate (PEP) from pyruvate.

The enzymes pyruvate carboxylase and phosphoenolpyruvate carboxykinase provide an alternative path to effectively reverse the actions of pyruvate kinase.

However, both acetyl CoA and citrate activate gluconeogenesis enzymes (pyruvate carboxylase and fructose-1,6-bisphosphatase, respectively).

Acetyl-CoA for Pyruvate carboxylase (Gluconeogenesis)

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

Triheptanoin is used clinically in humans to treat inherited metabolic diseases, such as pyruvate carboxylase deficiency and carnitine palmitoyltransferase II deficiency.