Pyruvate Carboxylase Deficiency Disease

An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Also Known As:
Ataxia with Lactic Acidosis 2; Deficiency Disease, Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency; Type II Ataxia with Lactic Acidosis; Carboxylase Deficiencies, Pyruvate; Carboxylase Deficiency, Pyruvate; Deficiencies, Pyruvate Carboxylase; Deficiency, Pyruvate Carboxylase; Pyruvate Carboxylase Deficiencies; Ataxia with Lactic Acidosis, Type II; Lactic Acidosis with Ataxia, Type II
Networked: 30 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1. Lactic Acidosis
2. Propionic Acidemia
3. Hyperammonemia
4. Hyperlysinemias (Hyperlysinemia)
5. Infantile Spasms (West Syndrome)


1. De Meirleir, Linda: 2 articles (01/2013 - 12/2002)
2. Lehman, Anna M: 1 article (03/2014)
3. Eydoux, Patrice: 1 article (03/2014)
4. Preece, Mary Anne: 1 article (03/2014)
5. Bhavsar, Amit P: 1 article (03/2014)
6. Santra, Saikat: 1 article (03/2014)
7. Nguyen, Hien: 1 article (03/2014)
8. Zhang, Lin-Hua: 1 article (03/2014)
9. Waheed, Abdul: 1 article (03/2014)
10. Ukpeh, Henry: 1 article (03/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pyruvate Carboxylase Deficiency Disease:
1. Pyruvate CarboxylaseIBA
03/01/1984 - "We propose that the different clinical presentation of human pyruvate carboxylase deficiency is a manifestation of two different mutations in the pyruvate carboxylase gene, one that results in the synthesis of a relatively inactive pyruvate carboxylase protein CRM(+ve) and one that results in the lack of expression of the gene in the form of a recognizable protein CRM(-ve)."
06/30/1983 - "Pyruvate carboxylase activity was investigated in cultured fibroblasts from a patient shown to have hepatic pyruvate carboxylase deficiency. "
05/25/1983 - "Four out of 5 cell lines from patients with classical pyruvate carboxylase deficiency (less than 5% of normal activity) labeled with this technique displayed a normal band in the position of pyruvate carboxylase while one cell line showed complete absence of any labeled protein in this area. "
01/01/1980 - "The activity of pyruvate carboxylase in the crude homogenate from cultured human fibroblasts was 0.76 +/- 0.12 nmol/min per mg protein, while the activity in cultured amniotic fluid cells was 0.66 +/- 0.17 nmol/min per mg protein, suggesting the possibility of prenatal diagnosis of pyruvate carboxylase deficiency."
04/01/2005 - "Considering that pyruvate carboxylase is a key enzyme for anaplerosis, besides the new perspectives brought by anaplerotic therapies in those rare pyruvate carboxylase deficiencies, this therapeutic trial also emphasizes the possible extended indications of triheptanoin in various diseases where the citric acid cycle is impaired."
2. CarbonIBA
3. triheptanoinIBA
4. Pyruvic Acid (Pyruvate)IBA
5. Biotin (Vitamin H)FDA Link
6. Urea (Carbamide)FDA LinkGeneric
7. Aspartic Acid (Aspartate)FDA Link
8. OxaloacetateIBA
9. Lactic AcidFDA LinkGeneric
10. 3-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)IBA

Therapies and Procedures

1. Liver Transplantation
2. Diet Therapy (Therapy, Diet)