26711 Aliso Creek Road # 200B, Aliso Viejo, CA 92656 pcdeficiency@gmail.com (949) 280-1455
What is PCD
The Kiana Research Foundation supports research toward an effective treatment and a cure for Pyruvate Carboxylase Deficiency.
Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.
Pyruvate carboxylase deficiency is an inherited disorder caused by mutations in the PC gene. The PCgene provides instructions for making an enzyme called Pyruvate Carboxylase in mitochondria.
Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. Three clinical types are recognized:
Type A (infantile form), in which most affected children die in infancy or early childhood
Type B (severe neonatal form), in which affected infants have hepatomegaly, pyramidal tract signs, and abnormal movement and die within the first three months of life
Type C (intermittent/benign form), in which affected individuals have normal or mildly delayed neurologic development and episodic metabolic acidosis.
What is PCD
The Kiana Research Foundation supports research toward an effective treatment and a cure for Pyruvate Carboxylase Deficiency.
Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.
Pyruvate carboxylase deficiency is an inherited disorder caused by mutations in the PC gene. The PCgene provides instructions for making an enzyme called Pyruvate Carboxylase in mitochondria.
Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. Three clinical types are recognized: