Pyruvate Carboxylase Deficiency
NORD gratefully acknowledges Richard E Frye, MD, PhD, FAAP, Assistant Professor, Departments of Pediatrics and Neurology, University of Texas Health Science Center, for assistance in the preparation of this report.
Synonyms of Pyruvate Carboxylase Deficiency
Ataxia with Lactic Acidosis, Type II
- PC Deficiency
Subdivisions of Pyruvate Carboxylase Deficiency
pyruvate carboxylase deficiency type A
- pyruvate carboxylase deficiency type B
- pyruvate carboxylase deficiency type C
Pyruvate carboxylase deficiency is a rare genetic disorder characterized by a failure of the body to produce the necessary fuels for energy and neurotransmitters important for brain function. In its most severe form PCD leads to progressive damage to the tissue and organs, especially in the nervous system. Pyruvate carboxylase deficiency is inherited as an autosomal recessive genetic condition.
NORD Member Organizations
1992, 1998, 1999, 2007
January 1, 1970