scholarly journals Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

2012 ◽  
pp. 1-5 ◽  
Author(s):  
Elsebet Ostergaard ◽  
Morten Duno ◽  
Lisbeth Birk Møller ◽  
H. Serap Kalkanoglu-Sivri ◽  
Ali Dursun ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Type B ◽  
Novel Mutations ◽  
Pyruvate Carboxylase Deficiency

scholarly journals A Case of Pyruvate Carboxylase Deficiency With Longer Survival and Normal Laboratory Findings

2021 ◽  
Author(s):  
Reza Bayat ◽  
Shahin Koohmanaee ◽  
Nejat Mahdieh ◽  
Fatemeh Kharaee ◽  
Maryam Shahrokhi ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Amino Acid Level ◽  
Tca Cycle ◽  
Type B ◽  
Laboratory Findings ◽  
Short Life Span ◽  
Pyruvate Carboxylase Deficiency ◽  
Almost All ◽  
Cycle Regulation ◽  
Recessive Defect

Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters. Increased lactate to pyruvate ratio and decreased three hydroxybutyrates to acetoacetate are the main biochemical features of PCD. The elevated level of Citrulline, Proline, and Lysine with a short life span has been reported previously. Patients’ survival in almost all cases is below three months. Here, the authors aimed to report a girl with manifestations of Type B of PCD and longer survival (two-year and four-month-old). This patient did not have any changes in amino acid level, which was a unique case of Type B of PCD.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

2009 ◽  
Vol 30 (5) ◽  
pp. 734-740 ◽  
Author(s):  
Sophie Monnot ◽  
Val��rie Serre ◽  
Bernadette Chadefaux-Vekemans ◽  
Joelle Aupetit ◽  
St��phane Romano ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Novel Mutations ◽  
Pyruvate Carboxylase Deficiency ◽  
Structural Insights ◽  
Pathogenic Effects

MRI, Clinical, and Biochemical Features of Partial Pyruvate Carboxylase Deficiency

1994 ◽  
Vol 9 (4) ◽  
pp. 436-439 ◽  
Author(s):  
Joseph J. Higgins ◽  
Allen M. Glasgow ◽  
Marilyn Lusk ◽  
Douglas S. Kerr
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency ◽  
Biochemical Features

scholarly journals The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival

2008 ◽  
Vol 95 (1-2) ◽  
pp. 31-38 ◽  
Author(s):  
Dong Wang ◽  
Hong Yang ◽  
Kevin C. De Braganca ◽  
Jiesheng Lu ◽  
Ling Yu Shih ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Pyruvate Carboxylase ◽  
Prolonged Survival ◽  
Pyruvate Carboxylase Deficiency

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

2012 ◽  
Vol 28 (11) ◽  
pp. 1505-1508 ◽  
Author(s):  
Ozlem Unal ◽  
Diclehan Orhan ◽  
Elsebet Ostergaard ◽  
Aysegul Tokatli ◽  
Ali Dursun ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency ◽  
Nemaline Rods

Pyruvate Carboxylase Deficiency

2009 ◽  
pp. 1798-1800
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency

Pyruvate Carboxylase Deficiency

1984 ◽  
pp. 74-78
Author(s):  
K. Bartlett ◽  
H. K. Ghneim ◽  
J.-H. Stirk ◽  
G. Dale ◽  
K. G. M. M. Alberti
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency

Pyruvate carboxylase deficiency in twins

1986 ◽  
Vol 9 (1) ◽  
pp. 29-30 ◽  
Author(s):  
M. A. Pollock ◽  
M. Cumberbatch ◽  
M. J. Bennett ◽  
R. G. F. Gray ◽  
M. Brand ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency
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