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.

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

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

scholarly journals The Epiphytic FernElaphoglossum luridum(Fée) Christ. (Dryopteridaceae) from Central and South America: Morphological and Physiological Responses to Water Stress

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Bruno Degaspari Minardi ◽  
Ana Paula Lorenzen Voytena ◽  
Marisa Santos ◽  
Áurea Maria Randi
Keyword(s):  
Water Stress ◽  
Water Deficit ◽  
Chlorophyll A ◽  
Tca Cycle ◽  
Photosynthetic Parameters ◽  
Relative Water ◽  
Physiological Studies ◽  
Cycle Regulation ◽  
Epiphytic Fern ◽  
Chlorophyll A Content

Elaphoglossum luridum(Fée) Christ. (Dryopteridaceae) is an epiphytic fern of the Atlantic Forest (Brazil). Anatomical and physiological studies were conducted to understand how this plant responds to water stress. TheE. luridumfrond is coriaceus and succulent, presenting trichomes, relatively thick cuticle, and sinuous cell walls in both abaxial and adaxial epidermis. Three treatments were analyzed: control, water deficit, and abscisic acid (ABA). Physiological studies were conducted through analysis of relative water content (RWC), photosynthetic pigments, chlorophyll a fluorescence, and malate content. No changes in RWC were observed among treatments; however, significant decreases in chlorophyll a content and photosynthetic parameters, including optimal irradiance (Iopt) and maximum electron transport rate (ETRmax), were determined by rapid light curves (RLC). No evidence of crassulacean acid metabolism (CAM) pathway was observed inE. luridumin response to either water deficit or exogenous application of ABA. On the other hand, malate content decreased in theE. luridumfrond after ABA treatment, seeming to downregulate malate metabolism at night, possibly through tricarboxylic acid (TCA) cycle regulation.

scholarly journals Sex Differences in Brain Tumor Glutamine Metabolism Reveal Sex-Specific Vulnerabilities to Treatment

2021 ◽  
Author(s):  
Jasmin Sponagel ◽  
Jill K. Jones ◽  
Cheryl Frankfater ◽  
Shanshan Zhang ◽  
Olivia Tung ◽  
...  
Keyword(s):  
Amino Acids ◽  
Sex Differences ◽  
Pyruvate Carboxylase ◽  
Tca Cycle ◽  
Glutamine Metabolism ◽  
Normal Metabolism ◽  
Male Patients ◽  
Glutaminase 1 ◽  
Metabolite Abundance ◽  
Glutamine Uptake

Sex differences in normal metabolism are well described, but whether they persist in cancerous tissue is unknown. We assessed metabolite abundance in glioblastoma surgical specimens and found that male glioblastomas are enriched for amino acids, including glutamine. Using PET imaging, we found that gliomas in male patients exhibit significantly higher glutamine uptake. These sex differences were well-modeled in murine transformed astrocytes, in which male cells imported and metabolized more glutamine and were more sensitive to glutaminase 1 (GLS1) inhibition. The sensitivity to GLS1 inhibition in males was driven by their dependence on glutamine-derived glutamate for α-ketoglutarate synthesis and TCA cycle replenishment. Females were resistant to GLS inhibition through greater pyruvate carboxylase-mediated TCA cycle replenishment. Thus, clinically important sex differences exist in targetable elements of metabolism. Recognition of sex-biased metabolism is an opportunity to improve treatments for all patients through further laboratory and clinical research.

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

Incidence of Invasive Bacterial Disease in Children with Fever and Petechiae

PEDIATRICS ◽  
1984 ◽  
Vol 74 (1) ◽  
pp. 77-80 ◽  
Author(s):  
Quoc Van Nguyen ◽  
Elizabeth A. Nguyen ◽  
Leonard B. Weiner
Keyword(s):  
Bacterial Infections ◽  
Haemophilus Influenzae Type ◽  
Bacterial Disease ◽  
Type B ◽  
Laboratory Findings ◽  
Life Threatening ◽  
Symptom Complex ◽  
Significant Disease ◽  
Single Laboratory ◽  
Normal Laboratory

The records of 129 patients admitted to the hospital with the findings of fever and petechiae were reviewed to determine the incidence of invasive bacterial disease in patients with this symptom complex. Twenty-six patients (20.2%) had culture-proven bacterial infections; 13 (11.1%) of the group had Neisseria meningitidis, eight had Haemophilus influenzae type B. No single laboratory test was sufficiently sensitive to detect all patients with life-threatening bacterial infections, but a combination of normal laboratory findings was highly specific for those without significant disease.

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
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