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Pyruvate Carboxylase

A biotin-dependent enzyme belonging to the ligase family that catalyzes the addition of CARBON DIOXIDE to pyruvate. It is occurs in both plants and animals. Deficiency of this enzyme causes severe psychomotor retardation and ACIDOSIS, LACTIC in infants. EC 6.4.1.1.
Also Known As:
Carboxylase, Pyruvate; Pyruvate:carbon-dioxide ligase (ADP-forming)
Networked: 97 relevant articles (0 outcomes, 9 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Jitrapakdee, Sarawut: 4 articles (01/2015 - 07/2007)
2. MacDonald, Michael J: 4 articles (01/2015 - 10/2008)
3. Wallace, John C: 3 articles (01/2015 - 07/2007)
4. Hasan, Noaman M: 3 articles (04/2013 - 10/2008)
5. Stoker, Scott W: 3 articles (04/2013 - 10/2008)
6. Higashi, Richard M: 2 articles (02/2015 - 01/2009)
7. Lane, Andrew N: 2 articles (02/2015 - 01/2009)
8. Bousamra, Michael: 2 articles (02/2015 - 01/2009)
9. Miller, Donald M: 2 articles (02/2015 - 01/2009)
10. Patel, Anant B: 2 articles (01/2014 - 01/2005)

Related Diseases

1. Neoplasms (Cancer)
2. Leigh Disease (Leigh's Disease)
3. Pyruvate Carboxylase Deficiency Disease
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."
4. Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
5. Seizures (Seizure)

Related Drugs and Biologics

1. Glucose (Dextrose)
2. Glutamine (L-Glutamine)
3. Glutamic Acid (Glutamate)
4. Pyruvate Decarboxylase (Decarboxylase, Pyruvate)
5. Dihydrolipoamide Dehydrogenase (Lipoamide Dehydrogenase)
6. Halothane (Fluothane)
7. Bicuculline
8. Alanine (L-Alanine)
9. triheptanoin
10. Biotin (Vitamin H)

Related Therapies and Procedures

1. Intravenous Infusions
2. Ovariectomy (Oophorectomy)
3. Drug Therapy (Chemotherapy)