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Congenital lactic acidosis

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https://www.readbyqxmd.com/read/28712726/sengers-syndrome-associated-mitochondrial-acylglycerol-kinase-is-a-subunit-of-the-human-tim22-protein-import-complex
#1
Yilin Kang, David A Stroud, Michael J Baker, David P De Souza, Ann E Frazier, Michael Liem, Dedreia Tull, Suresh Mathivanan, Malcolm J McConville, David R Thorburn, Michael T Ryan, Diana Stojanovski
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that catalyzes the phosphorylation of monoacylglycerol and diacylglycerol to lysophosphatidic acid and phosphatidic acid, respectively. Mutations in AGK cause Sengers syndrome, which is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Here we identified AGK as a subunit of the mitochondrial TIM22 protein import complex. We show that AGK functions in a kinase-independent manner to maintain the integrity of the TIM22 complex, where it facilitates the import and assembly of mitochondrial carrier proteins...
July 11, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28419508/experience-of-carrier-couples-identified-through-a-population-based-carrier-screening-pilot-program-for-four-founder-autosomal-recessive-diseases-in-saguenay-lac-saint-jean
#2
Jessica Tardif, Annabelle Pratte, Anne-Marie Laberge
A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada for four recessive diseases with local founder effects (tyrosinemia type I, ARSACS, congenital lactic acidosis, and Andermann syndrome). OBJECTIVES: Describe the experience of carrier couples identified through this program. METHODS: Semi-structured interviews were performed with carrier couples. Thematic analysis of interview transcripts was done to identify emerging themes...
April 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28163135/a-mechanism-based-pharmacokinetic-enzyme-turnover-model-for-dichloroacetic-acid-autoinhibition-in-rats
#3
Yu Jiang, Gary Milavetz, Margaret O James, Guohua An
Dichloroacetic acid (DCA), a halogenated organic acid, is a pyruvate dehydrogenase kinase inhibitor that has been used to treat congenital or acquired lactic acidosis and is currently in early-phase clinical trials for cancer treatment. DCA was found to inhibit its own metabolism by irreversibly inactivating glutathione transferase zeta 1 (GSTZ1-1), resulting in nonlinear kinetics and abnormally high accumulation ratio after repeated dosing. In this analysis, a semi-mechanistic pharmacokinetic enzyme turnover model was developed for the first time to capture DCA autoinhibition, gastrointestinal region-dependent absorption, and time-dependent change in bioavailability in rats...
February 3, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28155230/further-delineation-of-a-rare-recessive-encephalomyopathy-linked-to-mutations-in-gfer-thanks-to-data-sharing-of-whole-exome-sequencing-data
#4
S Nambot, D Gavrilov, J Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
BACKGROUND: Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#5
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, Robert McFarland, Adeline Vanderver
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27815843/coxpd9-an-evolving-multisystem-disease-congenital-lactic-acidosis-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-cirrhosis-and-interstitial-nephritis
#6
C Bursle, A Narendra, R Chuk, J Cardinal, R Justo, B Lewis, D Coman
We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27743463/fbxl4-defects-are-common-in-patients-with-congenital-lactic-acidemia-and-encephalomyopathic-mitochondrial-dna-depletion-syndrome
#7
H Dai, V W Zhang, A W El-Hattab, C Ficicioglu, M Shinawi, M Lines, A Schulze, M McNutt, G Gotway, X Tian, S Chen, J Wang, W J Craigen, L-J Wong
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to have a mitochondrial disorder. In addition, 28 samples from patients with early onset of lactic acidosis, but without identifiable mutations in 192 genes known to cause mitochondrial diseases, were examined for FBXL4 mutations. Definitive diagnosis was made in 10 new subjects with a total of 7 novel deleterious variants; 5 null and 2 missense substitutions...
April 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27720121/rapid-quantification-of-metabolic-intermediates-in-blood-by-liquid-chromatography-tandem-mass-spectrometry-to-investigate-congenital-lactic-acidosis
#8
Minzhi Peng, Yanna Cai, Xiefan Fang, Li Liu
A novel liquid chromatography-tandem mass spectrometry (LC-MS/MS) method has been established to quantify metabolic intermediates, including lactate (Lac), pyruvate (Pyr), acetoacetate (ACAC) and 3-hydroxybutyrate (3-HB) in blood. Samples were deproteinized with methanol-acetonitrile solution, and analytes were separated on an adamantyl group-bonded reverse phase column and detected in multiple reaction monitoring mode. Total analysis time was 4 min per sample. Method validation results displayed that limits of quantification were 10...
October 26, 2016: Analytica Chimica Acta
https://www.readbyqxmd.com/read/27648896/association-of-extracorporeal-membrane-oxygenation-support-adequacy-and-residual-lesions-with-outcomes-in-neonates-supported-after-cardiac-surgery
#9
Taylor S Howard, Brian T Kalish, Daniel Wigmore, Meena Nathan, Thomas J Kulik, Aditya K Kaza, Kathryn Williams, Ravi R Thiagarajan
OBJECTIVES: There is a paucity of data regarding the impact of extracorporeal membrane oxygenation support, adequacy of surgical repair, and timing of intervention for residual structural lesions in neonates cannulated to extracorporeal membrane oxygenation after cardiac surgery. Our goal was to determine how these factors were associated with survival. DESIGN: Retrospective study. SETTING: Cardiovascular ICU. SUBJECTS: Neonates (≤ 28 d old) with congenital heart disease cannulated to extracorporeal membrane oxygenation after cardiac surgery during 2006-2013...
November 2016: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/27399168/an-unusual-presentation-of-congenital-intestinal-malrotation-in-a-nonagenarian
#10
Joseph S Fernandez-Moure, Maya L Moses, Andres Garcia, Michael M Reader
INTRODUCTION: Appendicitis is a common surgical pathology with many clinical presentations. Diagnosis can be challenging if there is an alteration to the normal position of anatomical structures and their relationships. CASE PRESENTATION: In this case, we report an unusual presentation of congenital intestinal malrotation in a nonagenarian presenting with generalized abdominal pain and lactic acidosis found to have perforated appendicitis. The patient was admitted to the Hospitalist service for abdominal pain and misdiagnosed with bowel obstruction secondary to previous "operation"...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27331005/beneficial-effect-of-feeding-a-ketogenic-diet-to-mothers-on-brain-development-in-their-progeny-with-a-murine-model-of-pyruvate-dehydrogenase-complex-deficiency
#11
Lioudmila Pliss, Urvi Jatania, Mulchand S Patel
UNLABELLED: Pyruvate dehydrogenase complex (PDC) deficiency is a major inborn error of oxidative metabolism of pyruvate in the mitochondria causing congenital lactic acidosis and primarily structural and functional abnormalities of the central nervous system. To provide an alternate source of acetyl-CoA derived from ketone bodies to the developing brain, a formula high in fat content is widely employed as a treatment. In the present study we investigated efficacy of a high-fat diet given to mothers during pregnancy and lactation on lessening of the impact of PDC deficiency on brain development in PDC-deficient female progeny...
June 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27233227/evidence-of-a-wide-spectrum-of-cardiac-involvement-due-to-acad9-mutations-report-on-nine-patients
#12
Joseph P Dewulf, Catherine Barrea, Marie-Françoise Vincent, Corinne De Laet, Rudy Van Coster, Sara Seneca, Sandrine Marie, Marie-Cécile Nassogne
Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase (ACAD) activity. ACAD9-mutated patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders. ACAD9 mutation is suspected in cases of elevated lactic acid levels combined with complex I deficiency, and confirmed by ACAD9 gene analysis. At least 18 ACAD9-mutated patients have previously been reported, usually displaying severe cardiac involvement...
July 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26957401/postoperative-abdominal-nirs-values-predict-low-cardiac-output-syndrome-in-neonates
#13
Rhiannon L Hickok, Michael C Spaeder, John T Berger, Jennifer J Schuette, Darren Klugman
BACKGROUND: The development of low cardiac output syndrome (LCOS) after cardiopulmonary bypass (CPB) occurs in up to 25% of neonates and is associated with increased morbidity. Invasive cardiac output monitors such as pulmonary artery catheters have limited availability and are costly. Near-infrared spectroscopy (NIRS) is a noninvasive tool for monitoring regional oxygenation in neonates in the cardiac intensive care unit (CICU). We hypothesize that anterior abdominal NIRS may aid in the early identification of LCOS after cardiac surgery...
March 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/26935268/in-human-alloreactive-cd4%C3%A2-%C2%BA-t-cells-dichloroacetate-inhibits-aerobic-glycolysis-induces-apoptosis-and-favors-differentiation-towards-the-regulatory-t-cell-subset-instead-of-effector-t-cell-subsets
#14
Theodoros Eleftheriadis, Maria Sounidaki, Georgios Pissas, Georgia Antoniadi, Vassilios Liakopoulos, Ioannis Stefanidis
Although kidney transplantation is the best therapy for end-stage renal disease, rejection remains a concern, and currently available immunosuppressive agents contribute to morbidity and mortality. Thus, novel immunosuppressive drugs are required. Dichloroacetate (DCA) is already used in the treatment of congenital lactic acidosis and characterized by limited toxicity. As DCA inhibits aerobic glycolysis, which is a prerequisite for CD4+ T-cell proliferation and differentiation into effector T-cells, its possible immunosuppressive role in mixed lymphocyte reaction (MLR), a model of alloreactivity, was investigated...
April 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/26920905/echs1-deficiency-as-a-cause-of-severe-neonatal-lactic-acidosis
#15
Rebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, Andrew Edmondson, Matthew A Deardorff, Michael J Bennett, Can Ficicioglu
Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads to secondary mitochondrial dysfunction. The majority of previously reported patients had the Leigh syndrome, with a median life expectancy of approximately 2 years. We report two siblings born 3 years apart with prenatal findings including facial dysmorphia, oligohydramnios, intrauterine growth restriction, and premature delivery...
2016: JIMD Reports
https://www.readbyqxmd.com/read/26510951/lrpprc-mutations-cause-early-onset-multisystem-mitochondrial-disease-outside-of-the-french-canadian-population
#16
Monika Oláhová, Steven A Hardy, Julie Hall, John W Yarham, Tobias B Haack, William C Wilson, Charlotte L Alston, Langping He, Erik Aznauryan, Ruth M Brown, Garry K Brown, Andrew A M Morris, Helen Mundy, Alex Broomfield, Ines A Barbosa, Michael A Simpson, Charu Deshpande, Dorothea Moeslinger, Johannes Koch, Georg M Stettner, Penelope E Bonnen, Holger Prokisch, Robert N Lightowlers, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Robert W Taylor
Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency can result from mutations affecting many different mitochondrial proteins. The French-Canadian variant of COX-deficient Leigh syndrome is unique to the Saguenay-Lac-Saint-Jean region of Québec and is caused by a founder mutation in the LRPPRC gene...
December 2015: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26018198/adrenal-insufficiency-in-mitochondrial-disease-a-rare-case-of-gfer-related-mitochondrial-encephalomyopathy-and-review-of-the-literature
#17
REVIEW
Laurel Calderwood, Ingrid A Holm, Lisa A Teot, Irina Anselm
GFER-related mitochondrial encephalomyopathy has been previously described only in 3 siblings of a consanguineous Moroccan family. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. Multiple mitochondrial respiratory chain complex deficiencies were identified on muscle biopsy. We describe a now-19-year-old woman with adrenal insufficiency, lactic acidosis, congenital cataracts, and respiratory insufficiency secondary to mitochondrial disorder, who was reported by North et al (1996) as a toddler...
February 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/25638461/a-novel-homozygous-yars2-mutation-in-two-italian-siblings-and-a-review-of-literature
#18
Anna Ardissone, Eleonora Lamantea, Jade Quartararo, Cristina Dallabona, Franco Carrara, Isabella Moroni, Claudia Donnini, Barbara Garavaglia, Massimo Zeviani, Graziella Uziel
YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of tyrosine to its cognate mt-tRNA. Mutations in YARS2 have been identified in patients with myopathy, lactic acidosis, and sideroblastic anemia type 2 (MLASA2). We report here on two siblings with a novel mutation and a review of literature. The older patient presented at 2 months with marked anemia and lactic acidemia. He required periodic blood transfusions until 14 months of age. Cognitive and motor development was normal...
2015: JIMD Reports
https://www.readbyqxmd.com/read/25604853/rmnd1-deficiency-associated-with-neonatal-lactic-acidosis-infantile-onset-renal-failure-deafness-and-multiorgan-involvement
#19
Alexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, Hana Antonicka, Malak Al Ghamdi, Casper Shyr, Mary Dunbar, Sylvia Stockler-Ispiroglu, Colin J Ross, Hilary Vallance, Janis Dionne, Wyeth W Wasserman, Eric A Shoubridge
RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are essential subunits of the oxidative phosphorylation (OXPHOS) complexes. Variants in RMND1 produce global defects in mitochondrial translation and were first reported in patients with severe neurological phenotypes leading to mortality in the first months of life. Using whole-exome sequencing, we identified compound heterozygous RMND1 variants in a 4-year-old patient with congenital lactic acidosis, severe myopathy, hearing loss, renal failure, and dysautonomia...
October 2015: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/25548361/an-unusual-cause-of-persisting-hyperlactatemia-in-a-neonate-undergoing-open-heart-surgery
#20
Ashish Kumar Simalti, Raja Joshi, Neeraj Aggarwal, Mridul Agarwal, Reena K Joshi
Being a reflection of the degree of global tissue anoxia, serum lactate levels therefore can be used as a marker of organ damage and eventual outcome. A statistically significant association was observed between serum lactate levels and subsequent mortality and morbidity in critically ill adults, children, and neonates. In cardiac critical care, hyperlactatemia is usually multifactorial in origin, resulting from a combination of etiologies. Many centers are using serial lactate levels in conjugation with other parameters of cellular oxygen delivery, consumption, or extraction to monitor prognosis after pediatric cardiac surgery...
January 2015: World Journal for Pediatric & Congenital Heart Surgery
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