Pyruvate carboxylase deficiency

Common Name(s)

Pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.
 

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Condition Specific Organizations

Following organizations serve the condition "Pyruvate carboxylase deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pyruvate carboxylase deficiency" returned 7 free, full-text research articles on human participants. First 3 results:

The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
 

Author(s): Dong Wang, Hong Yang, Kevin C De Braganca, Jiesheng Lu, Ling Yu Shih, Paz Briones, Tim Lang, Darryl C De Vivo

Journal: Mol. Genet. Metab.. ;95(1-2):31-8.

 

Pyruvate carboxylase (PC) deficiency (OMIM, 266150) is a rare autosomal recessive disease. The revised PC gene structure described in this report consists of 20 coding exons and four non-coding exons at the 5'-untranslated region (5'-UTR). The gene codes for three transcripts due ...

Last Updated: 22 Sep 2008

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Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
 

Author(s): M A Carbone, N MacKay, M Ling, D E Cole, C Douglas, B Rigat, A Feigenbaum, J T Clarke, J C Haworth, C R Greenberg, L Seargeant, B H Robinson

Journal: Am. J. Hum. Genet.. 1998 Jun;62(6):1312-9.

 

We characterized the pyruvate carboxylase (PC) gene by PCR amplification, subcloning, and sequencing. The coding region has 19 exons and 18 introns spanning approximately 16 kb of genomic DNA. Screening both the cDNA and the gene of individuals with the simple A form of PC deficiency ...

Last Updated: 24 Jun 1998

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The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.
 

Author(s): B H Robinson, J Oei, J M Saudubray, C Marsac, K Bartlett, F Quan, R Gravel

Journal: Am. J. Hum. Genet.. 1987 Jan;40(1):50-9.

 

Cultured skin fibroblasts from 16 patients with either French or American pyruvate carboxylase (PC) deficiency were examined for their ability to incorporate 3H-biotin into proteins. Cell extracts were also examined for the presence of biotin-containing proteins with 35S-streptavidin, ...

Last Updated: 10 Mar 1987

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pyruvate carboxylase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
 

Status: Available

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2); Mitochondrial Trifunctional Protein Deficiency; Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogen Storage Disorders; Pyruvate Carboxylase Deficiency, Type B; Acyl-coA Dehydrogenase, Type 9

 

Last Updated: 7 Oct 2013

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