384 results match your criteria Pyruvate Carboxylase Deficiency


Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Front Pediatr 2022 28;10:825515. Epub 2022 Apr 28.

Department of Pediatrics, XiJing Hospital, Fourth Military Medical University, Xi'an, China.

Background: Pyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels, and hyperammonemia. The pyruvate carboxylase (PC) gene was identified to be the disease-causing gene for PCD. A novel homozygous splice variant in the PC gene was identified in a Chinese boy, but the pathogenicity is still unclear. Read More

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Differential growth inhibition, cell cycle arrest and apoptosis of MCF-7 and MDA-MB-231 cells to holocarboxylase synthetase suppression.

Biochem Biophys Res Commun 2022 02 14;593:108-115. Epub 2022 Jan 14.

Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, 10400, Thailand. Electronic address:

Holocarboxylase synthetase (HLCS) catalyzes the covalent attachment of biotin onto the biotin-dependent carboxylases. Recent studies have shown that HLCS is over-expressed in breast cancer patients. Here we investigated the functional roles of free biotin and HLCS in supporting growth and migration of breast cancer cell lines. Read More

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February 2022

Nutrient metabolism in the liver and muscle of juvenile blunt snout bream (Megalobrama amblycephala) in response to dietary methionine levels.

Sci Rep 2021 12 13;11(1):23843. Epub 2021 Dec 13.

Wuxi Fisheries College, Nanjing Agricultural University, Wuxi, 214081, China.

A 75-day rearing trial was designed to study the response of juvenile Megalobrama amblycephala to dietary methionine (Met) levels. Three practical diets with graded Met levels (0.40%, 0. Read More

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December 2021

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous c.1828G > A mutations.

JIMD Rep 2021 Sep 14;61(1):42-47. Epub 2021 Jun 14.

Department of Radiology, Rady Faculty of Health Sciences, Max Rady College of Medicine University of Manitoba Winnipeg Canada.

Pyruvate carboxylase (PC) deficiency (MIM# 266150) is an autosomal recessive disorder with three subtypes. Patients homozygous for the c.1828G > A mutation in the gene belong to type A, which typically has infantile onset, severe to profound developmental delay, hypotonia, and lactic acidemia. Read More

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September 2021

Adaptation of AMPK-mTOR-signal pathways and lipid metabolism in response to low- and high-level rapeseed meal diet in Chinese perch (Siniperca chuatsi).

J Comp Physiol B 2021 09 9;191(5):881-894. Epub 2021 Aug 9.

College of Fisheries, Chinese Perch Research Center, Huazhong Agricultural University, Wuhan, 430070, China.

It is well known that carnivorous fish cannot use plant-proteins efficiently. They affect lipid metabolism of fish and cause serious problems to fish health. The reasons for this deficiency of fish metabolism are not known well. Read More

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September 2021

A Unique Case of Pyruvate Carboxylase Deficiency.

Cureus 2021 May 15;13(5):e15042. Epub 2021 May 15.

Neurology, Universidad San Francisco de Quito, Quito, ECU.

Pyruvate carboxylase (PC) converts pyruvate to oxaloacetate, which is an important step in gluconeogenesis. Pyruvate carboxylase deficiency (PCD) is a rare inherited metabolic disorder characterized by movement disorders, neurologic disturbances, hypoglycemia, lactic acidosis, hyperammonemia, and elevated levels of pyruvate and alanine in plasma. The prognosis for PCD is poor. Read More

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Case report of Takotsubo syndrome following seizures in a patient with pyruvate carboxylase deficiency.

Eur Heart J Case Rep 2021 Mar 4;5(3):ytab011. Epub 2021 Mar 4.

Cardiology Department, Homerton University Hospital, Homerton Row, Clapton, London E9 6SR, UK.

Background: Takotsubo syndrome (TS) is defined as transient left ventricular dysfunction, which is often related to an emotional or physically stressful event. We describe a case of TS in a lady with pyruvate carboxylase deficiency (PCD). Pyruvate carboxylase deficiency is rare condition with the majority of those affected demonstrating signs of failure to thrive, recurrent seizures, and metabolic acidosis. Read More

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Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis.

J Pediatr Endocrinol Metab 2021 Jul 16;34(7):947-950. Epub 2021 Apr 16.

Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

Objectives: Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients in literature to date. Herein, we present the case of a four-year-old patient admitted with diabetic ketoacidosis and diagnosed with type C PC deficiency based on clinical and biochemical findings.

Case Presentation: A Turkish girl was referred to the intensive care unit at the age of three-years with a three-day history of vomiting and abdominal pain. Read More

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Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase.

Seizure 2021 Mar 16;86:152-154. Epub 2021 Feb 16.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.

Purpose: Our purpose was to better understand the pathogenesis of seizures associated with angiocentric glioma. Angiocentric glioma is an indolent and rare low-grade glioma. Its typical clinical presentation is with epileptic seizures. Read More

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Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.

Int J Environ Res Public Health 2021 02 9;18(4). Epub 2021 Feb 9.

Center for Advanced Studies and Technology (CAST), University "G. d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.

Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD deficiency is also recognized as late-onset multiple carboxylase deficiency and is associated with secondary alterations in the metabolism of amino acids, carbohydrates, and fatty acids. Read More

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February 2021

Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.

J Coll Physicians Surg Pak 2021 Jan;31(1):95-97

Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan.

Multiple carboxylase deficiency organic Acidemia is a rare inherited metabolic disorder. It is autosomal recessive disorder of two types: Holocarboxylase deficiency and Biotinidase deficiency. It is the metabolic disorder resulting from deficiency of biotin as a co-enzyme or reduced activity of biotin-dependent carboxylases (propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase). Read More

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January 2021

Neuronal metabolic rewiring promotes resilience to neurodegeneration caused by mitochondrial dysfunction.

Sci Adv 2020 08 28;6(35):eaba8271. Epub 2020 Aug 28.

Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany.

Neurodegeneration in mitochondrial disorders is considered irreversible because of limited metabolic plasticity in neurons, yet the cell-autonomous implications of mitochondrial dysfunction for neuronal metabolism in vivo are poorly understood. Here, we profiled the cell-specific proteome of Purkinje neurons undergoing progressive OXPHOS deficiency caused by disrupted mitochondrial fusion dynamics. We found that mitochondrial dysfunction triggers a profound rewiring of the proteomic landscape, culminating in the sequential activation of precise metabolic programs preceding cell death. Read More

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Autosomal dominant transmission of transient neonatal lactic acidosis: a case report.

BMC Pediatr 2020 04 20;20(1):177. Epub 2020 Apr 20.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Background: Lactic acidosis is a common finding in neonates, in whom mitochondrial dysfunction is often secondary to tissue hypoperfusion, respiratory failure, and/or sepsis. Primary (non-physiological) lactic acidosis is comparatively rare, and suggests the presence of an inborn error of mitochondrial energy metabolism. Optimal medical management and accurate prognostication requires the correct determination of the etiology of lactic acidosis in a given patient. Read More

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Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

J Pediatr Endocrinol Metab 2020 Apr;33(4):569-574

Behçet Uz Children Training & Research Hospital, Neonatology Department, Izmir, Turkey.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Read More

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Inhibition of Anaplerosis Attenuated Vascular Proliferation in Pulmonary Arterial Hypertension.

J Clin Med 2020 Feb 6;9(2). Epub 2020 Feb 6.

Department of Medicine, Division of Endocrinology, University of Arizona College of Medicine, Tucson, AZ 85721, USA.

Vascular remodeling is considered a key event in the pathogenesis of pulmonary arterial hypertension (PAH). However, mechanisms of gaining the proliferative phenotype by pulmonary vascular cells are still unresolved. Due to well-established pyruvate dehydrogenase (PDH) deficiency in PAH pathogenesis, we hypothesized that the activation of another branch of pyruvate metabolism, anaplerosis, via pyruvate carboxylase (PC) could be a key contributor to the metabolic reprogramming of the vasculature. Read More

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February 2020

Shikonin attenuates hyperhomocysteinemia-induced CD4 T cell inflammatory activation and atherosclerosis in ApoE mice by metabolic suppression.

Acta Pharmacol Sin 2020 Jan 13;41(1):47-55. Epub 2019 Oct 13.

Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Peking University Health Science Center, Key Laboratory of Molecular Cardiovascular Science, Ministry of Education, Beijing, 100191, China.

T cell metabolic activation plays a crucial role in inflammation of atherosclerosis. Shikonin (SKN), a natural naphthoquinone with anti-inflammatory activity, has shown to exert cardioprotective effects, but the effect of SKN on atherosclerosis is unclear. In addition, SKN was found to inhibit glycolysis via targeting pyruvate kinase muscle isozyme 2 (PKM2). Read More

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January 2020

Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan.

J Pak Med Assoc 2019 Mar;69(3):432-436

Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi.

In spite of the efforts and interventions by the Government of Pakistan and The World Health Organization, the neonatal mortality in Pakistan has declined by only 0.9% as compared to the global average decline of 2.1% between 2000 and 2010. Read More

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Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.

Hum Mutat 2019 06 13;40(6):816-827. Epub 2019 Apr 13.

Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany.

Pyruvate carboxylase deficiency (PCD) is caused by biallelic mutations of the PC gene. The reported clinical spectrum includes a neonatal form with early death (type B), an infantile fatal form (type A), and a late-onset form with isolated mild intellectual delay (type C). Apart from homozygous stop-codon mutations leading to type B PCD, a genotype-phenotype correlation has not otherwise been discernible. Read More

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Chronic Hypoxia Enhances β-Oxidation-Dependent Electron Transport via Electron Transferring Flavoproteins.

Cells 2019 02 18;8(2). Epub 2019 Feb 18.

Institute of Biochemistry I, Faculty of Medicine, Goethe-University Frankfurt, 60590 Frankfurt, Germany.

Hypoxia poses a stress to cells and decreases mitochondrial respiration, in part by electron transport chain (ETC) complex reorganization. While metabolism under acute hypoxia is well characterized, alterations under chronic hypoxia largely remain unexplored. We followed oxygen consumption rates in THP-1 monocytes during acute (16 h) and chronic (72 h) hypoxia, compared to normoxia, to analyze the electron flows associated with glycolysis, glutamine, and fatty acid oxidation. Read More

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February 2019

Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function.

Biochim Biophys Acta Mol Cell Biol Lipids 2019 05 5;1864(5):654-661. Epub 2019 Feb 5.

Department of Biological Sciences, Wayne State University, Detroit, MI 48202, United States of America. Electronic address:

Previous studies have shown that the cardiolipin (CL)-deficient yeast mutant, crd1Δ, has decreased levels of acetyl-CoA and decreased activities of the TCA cycle enzymes aconitase and succinate dehydrogenase. These biochemical phenotypes are expected to lead to defective TCA cycle function. In this study, we report that signaling and anaplerotic metabolic pathways that supplement defects in the TCA cycle are essential in crd1Δ mutant cells. Read More

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Interleukin-6 derived from cutaneous deficiency of stearoyl-CoA desaturase- 1 may mediate metabolic organ crosstalk among skin, adipose tissue and liver.

Biochem Biophys Res Commun 2019 01 22;508(1):87-91. Epub 2018 Nov 22.

Department of Nutritional Sciences, University of Wisconsin-Madison, Madison, WI 53706, USA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA. Electronic address:

Stearoyl-CoA desaturase 1 (SCD1), a lipogenic enzyme that adds a double bond at the delta 9 position of stearate (C18: 0) and palmitate (C16: 0), has been proven to be important in the development of obesity. Mice with skin-specific deficiency of SCD1 (SKO) display increased whole-body energy expenditure, which is protective against adiposity from a high-fat diet because it improves glucose clearance, insulin sensitivity, and hepatic steatosis. Of note, these mice also display elevated levels of the "pro-inflammatory" plasma interleukin-6 (IL-6). Read More

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January 2019

The Flavonoid Kaempferol Ameliorates Streptozotocin-Induced Diabetes by Suppressing Hepatic Glucose Production.

Molecules 2018 Sep 13;23(9). Epub 2018 Sep 13.

Department of Human Nutrition, Foods and Exercise, College of Agricultural and Life Sciences, Virginia Tech, Blacksburg, VA 24060, USA.

In diabetes mellitus, the excessive rate of glucose production from the liver is considered a primary contributor for the development of hyperglycemia, in particular, fasting hyperglycemia. In this study, we investigated whether kaempferol, a flavonol present in several medicinal herbs and foods, can be used to ameliorate diabetes in an animal model of insulin deficiency and further explored the mechanism underlying the anti-diabetic effect of this flavonol. We demonstrate that oral administration of kaempferol (50 mg/kg/day) to streptozotocin-induced diabetic mice significantly improved hyperglycemia and reduced the incidence of overt diabetes from 100% to 77. Read More

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September 2018

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.

Neuropediatrics 2018 12 25;49(6):369-372. Epub 2018 Jul 25.

Division of Biochemical Diseases, Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Pyruvate carboxylase (PC) is a biotin-containing enzyme that is responsible for the adenosine triphosphate-dependent carboxylation of pyruvate to oxaloacetate, a key intermediate in the tricarboxylic acid cycle. PC deficiency (OMIM 266150) is a rare autosomal recessive metabolic disease, causing elevation of pyruvate, lactate, and alanine. Three types of PC deficiency have been described in the literature; A, B, and C. Read More

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December 2018

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

Prenat Diagn 2018 May 12. Epub 2018 May 12.

Service de Gynécologie Obstetrique, Hopital Louis-Mourier, Colombes, France.

Objective: Pyruvate dehydrogenase deficiency (PDHD) and pyruvate carboxylase deficiency (PCD) are diseases with severe neonatal forms, and their low prevalence makes them difficult to diagnose during pregnancy. Our objective was to describe prenatal ultrasound features that may be suggestive of these diagnoses.

Methods: We analyzed 3 cases from our institution and reviewed 12 published cases of PDHD and 6 cases of PCD, recording all of the ultrasound signs, as well as magnetic resonance findings when available. Read More

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Novel mechanisms for organic acid-mediated aluminium tolerance in roots and leaves of two contrasting soybean genotypes.

AoB Plants 2017 Nov 17;9(6):plx064. Epub 2017 Nov 17.

Institute of Plant Molecular Biology, State Key Laboratory of Pharmaceutical Biotechnology, School of Life Sciences, Nanjing University, Nanjing, China.

Aluminium (Al) toxicity is one of the most important limiting factors for crop yield in acidic soils. However, the mechanisms that confer Al tolerance still remain largely unknown. To understand the molecular mechanism that confers different tolerance to Al, we performed global transcriptome analysis to the roots and leaves of two contrasting soybean genotypes, BX10 (Al-tolerant) and BD2 (Al-sensitive) under 0 and 50 μM Al treatments, respectively. Read More

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November 2017

Manganese metabolism in humans.

Front Biosci (Landmark Ed) 2018 03 1;23:1655-1679. Epub 2018 Mar 1.

Department of Molecular Pharmacology, Albert Einstein College of Medicine; 1300 Morris Park Ave, Bronx, NY 11354.

Manganese (Mn) is an essential nutrient for intracellular activities; it functions as a cofactor for a variety of enzymes, including arginase, glutamine synthetase (GS), pyruvate carboxylase and Mn superoxide dismutase (Mn-SOD). Through these metalloproteins, Mn plays critically important roles in development, digestion, reproduction, antioxidant defense, energy production, immune response and regulation of neuronal activities. Mn deficiency is rare. Read More

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Transcriptional regulation of acetyl CoA and lipid synthesis by P protein in Synechococcus PCC 7942.

J Basic Microbiol 2018 Feb 5;58(2):187-197. Epub 2017 Dec 5.

Laboratory of Microbial Genetics, Department of Botany, Banaras Hindu University, Varanasi, India.

P protein family is widespread in prokaryotes and plants. In this study, impacts of P deficiency on the synthesis of acetyl CoA and acetyl CoA carboxylase enzyme (ACCase) was analyzed in the Synechococcus sp. PCC 7942 by evaluating the mRNA levels of pyruvate kinase (PK), pyruvate dehydrogenase (PDH), citrate synthase (CS), biotin synthase (BS), biotin carboxylase (BC), biotin carboxyl carrier protein (BCCP), carboxyl transferase (CT) α and β subunits. Read More

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February 2018