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Propionic Acidemia

Moises Rodriguez-Gonzalez, Ana Castellano-Martinez
No abstract text is available yet for this article.
September 8, 2016: Indian Pediatrics
Judith A Hobert, Aiping Liu, Marzia Pasquali
Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency...
October 11, 2016: Current Protocols in Human Genetics
Paula J Waters, Fanny Thuriot, Joe T R Clarke, Serge Gravel, David Watkins, David S Rosenblatt, Sébastien Lévesque
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metabolic acidosis, the others with nonspecific neurological symptoms or asymptomatic. The clinical significance and biochemical characteristics of this rare condition have been incompletely defined. We now describe a patient who presented acutely at 5 years of age with vomiting, dehydration, confusion, severe metabolic acidosis and mild hyperammonemia...
December 2016: Molecular Genetics and Metabolism Reports
Raashda Ainuddin Sulaiman, Marwan Yassin Shaheen, Hamad Al-Zaidan, Zuhair Al-Hassnan, Moeenaldeen Al-Sayed, Zuhair Rahbeeni, Nasir Ahmed Bakshi, Namik Kaya, Mazhor Aldosary, Mohammed Al-Owain
We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is an inherited metabolic disorder in which patients often present with encephalopathy and pancytopenia during metabolic decompensation. However, these patients may rarely develop HLH with similar presentation. This case illustrates the need to distinguish HLH induced encephalopathy from the one secondary to metabolic decompensation in these patients, as early diagnosis and treatment of HLH improves prognosis...
August 2016: Intractable & Rare Diseases Research
Ashley Kuhl, Sandra van Calcar, Mei Baker, Christine M Seroogy, Gregory Rice, Jessica Scott Schwoerer
PURPOSE: This community project is an initiative through the University of Wisconsin Biochemical Genetics Clinic and the Wisconsin Newborn Screening Program to identify members of the Plain population who are at risk for having children with maple syrup urine disease (MSUD) or propionic acidemia (PA) or who have PA. METHODS: Because of the high prevalence of metabolic conditions in the Plain population and the importance of early intervention, a statewide outreach project was developed to provide targeted variant analysis of the common MSUD and PA pathogenic variants in this population through health-care provider distribution of blood spot testing kits...
August 11, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Mahnaz Darvish-Damavandi, Han Kiat Ho, Tse Siang Kang
Propionic acidemia (PA) is a life-threatening disease caused by the deficiency of a mitochondrial biotin-dependent enzyme known as propionyl coenzyme-A carboxylase (PCC). This enzyme is responsible for degrading the metabolic intermediate, propionyl coenzyme-A (PP-CoA), derived from multiple metabolic pathways. Currently, except for drastic surgical and dietary intervention that can only provide partial symptomatic relief, no other form of therapeutic option is available for this genetic disorder. Here, we examine a novel approach in protein delivery by specifically targeting and localizing our protein candidate of interest into the mitochondrial matrix of the cells...
September 2016: Molecular Genetics and Metabolism Reports
Masaki Honda, Seisuke Sakamoto, Rieko Sakamoto, Shirou Matsumoto, Tomoaki Irie, Koushi Uchida, Keita Shimata, Seiichi Kawabata, Kaori Isono, Shintaro Hayashida, Hidekazu Yamamoto, Fumio Endo, Yukihiro Inomata
We herein present the case of a four-yr-old boy with PA who developed AMR after ABO-incompatible LDLT despite undergoing B cell desensitization using rituximab. Although the CD19+ lymphocyte count decreased to 0.1% nine days after the administration of rituximab, he developed a high fever which was accompanied by arthralgia due to a streptococcal infection 13 days after rituximab prophylaxis. After the clearance of the infection, he underwent ABO-incompatible LDLT 36 days after the administration of rituximab...
September 2016: Pediatric Transplantation
Esther Imperlini, Lucia Santorelli, Stefania Orrù, Emanuela Scolamiero, Margherita Ruoppolo, Marianna Caterino
Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders result in the accumulation of mono-, di-, or tricarboxylic acids, generally referred to as organic acids. The OA outcomes can involve different organs and/or systems. Some OA disorders are easily managed if promptly diagnosed and treated, whereas, in others cases, such as propionate metabolism-related OAs (propionic acidemia, PA; methylmalonic acidemia, MMA), neither diet, vitamin therapy, nor liver transplantation appears to prevent multiorgan impairment...
2016: BioMed Research International
Emma Watson, Viridiana Olin-Sandoval, Michael J Hoy, Chi-Hua Li, Timo Louisse, Victoria Yao, Akihiro Mori, Amy D Holdorf, Olga G Troyanskaya, Markus Ralser, Albertha Jm Walhout
Metabolic network rewiring is the rerouting of metabolism through the use of alternate enzymes to adjust pathway flux and accomplish specific anabolic or catabolic objectives. Here, we report the first characterization of two parallel pathways for the breakdown of the short chain fatty acid propionate in Caenorhabditis elegans. Using genetic interaction mapping, gene co-expression analysis, pathway intermediate quantification and carbon tracing, we uncover a vitamin B12-independent propionate breakdown shunt that is transcriptionally activated on vitamin B12 deficient diets, or under genetic conditions mimicking the human diseases propionic- and methylmalonic acidemia, in which the canonical B12-dependent propionate breakdown pathway is blocked...
2016: ELife
Joy X Wen, L Richard Feldenberg, Elizabeth Abraham, Farouk Sadiq, Katherine M Christensen, Stephen R Braddock
Late-preterm twins with propionic acidemia developed severe hyperammonemic encephalopathy at 5 days of age. Continuous venovenous hemodialysis was performed successfully for both infants via extracorporeal membrane oxygenation pump, and both rapidly improved. They were taken off continuous venovenous hemodialysis and extracorporeal membrane oxygenation and discharged with dietary therapy. At 3 years of age, neurodevelopment showed globally delayed milestones.
August 2016: Journal of Pediatrics
Reza Najafi, Mahin Hashemipour, Neda Mostofizadeh, Mohammadreza Ghazavi, Jafar Nasiri, Armindokht Shahsanai, Fatemeh Famori, Fatemeh Najafi, Mohammad Moafi
OBJECTIVE: Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia. MATERIALS & METHODS: This cross-sectional study was part of a larger study conducted in patients with metabolic disorders during a period of 7 years from 2007 to 2014 in Isfahan Province, Iran...
2016: Iranian Journal of Child Neurology
Deepti Gupta, Sunita Bijarnia-Mahay, Sudha Kohli, Renu Saxena, Ratna Dua Puri, Yosuke Shigematsu, Seiji Yamaguchi, Osamu Sakamoto, Neerja Gupta, Madhulika Kabra, Seema Thakur, Roumi Deb, Ishwar Chander Verma
AIMS: The goal of this study was to identify mutations in the propionyl-CoA carboxylase alpha subunit (PCCA) and propionyl-CoA carboxylase beta subunit (PCCB) genes, and to assess their effects on propionic academia (PA) patients. METHODOLOGY: Twenty-five Indian children with PA were enrolled in this study. Bidirectional Sanger sequencing was performed on both the coding and flanking regions of the PCCA and PCCB genes and the chromatograms were analyzed. Bioinformatic tools were used to classify novel variations into pathogenic or benign...
July 2016: Genetic Testing and Molecular Biomarkers
Chiaki Baba, Mureo Kasahara, Yasuhiro Kogure, Shugo Kasuya, Sukeyuki Ito, Takako Tamura, Akinari Fukuda, Reiko Horikawa, Yasuyuki Suzuki
Methymalonic acidemia (MMA) is a hereditary metabolic disorder characterized by a defect of the methylmalonyl-CoA mutase that breaks down propionate. The efficacy of liver transplantation for MMA was recently reported. However, the anesthetic management of liver transplant for MMA is not clear. The aim of this article is to describe an anesthetic management algorithm of liver transplant for MMA by reviewing our cases of liver transplant for MMA. Fourteen patients received a liver transplant; three cases showed metabolic decompensation during the transplant and two of the patients died...
July 2016: Paediatric Anaesthesia
Osama Y Al-Dirbashi, Nathan McIntosh, Pranesh Chakraborty
BACKGROUND: Newborn screening for propionic acidemia and methylmalonic acidurias using the marker propionylcarnitine (C3) is neither sensitive nor specific. Using C3 to acetylcarnitine (C3/C2) ratio, together with conservative C3 cut-offs, can improve screening sensitivity, but the false positive rate remains high. Incorporating the marker 2-methylcitric acid has been suggested, to improve the positive predictive value for these disorders without compromising the sensitivity. METHODS: Between July 2011 and December 2012 at the Newborn Screening Ontario laboratory, all neonatal dried blood spot samples that were reported as screen positive for propionic acidemia or methylmalonic acidurias based on elevated C3 and C3/C2 ratio were analyzed for 2-methylcitric acid, using liquid chromatography tandem mass spectrometry...
May 22, 2016: Journal of Medical Screening
Fatma Deniz Aygun, Fatih Aygun, Halit Cam
Bacillus cereus can cause serious, life-threatening, systemic infections in immunocompromised patients. The ability of microorganism to form biofilm on biomedical devices can be responsible for catheter-related bloodstream infections. Other manifestations of severe disease are meningitis, endocarditis, osteomyelitis, and surgical and traumatic wound infections. The most common feature in true bacteremia caused by Bacillus is the presence of an intravascular catheter. Herein, we report a case of catheter-related bacteremia caused by B...
2016: Case Reports in Pediatrics
Neslihan Önenli Mungan, Deniz Kör, Selim Büyükkurt, Anıl Atmış, Ümran Güleç, Mehmet Satar
Although propionic acidemia (PA) is a devastating inherited metabolic disease, with early diagnosis and advanced treatment strategies prognosis gets better and girls can survive to child-bearing ages. We share the detailed follow-up data of the pregnancy, successful labor with cesarean section and a healthy baby of a Turkish patient with PA.
July 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
L Gallego-Villar, A Rivera-Barahona, C Cuevas-Martín, A Guenzel, B Pérez, M A Barry, M P Murphy, A Logan, A Gonzalez-Quintana, M A Martín, S Medina, A Gil-Izquierdo, J M Cuezva, E Richard, L R Desviat
Accumulation of toxic metabolites has been described to inhibit mitochondrial enzymes, thereby inducing oxidative stress in propionic acidemia (PA), an autosomal recessive metabolic disorder caused by the deficiency of mitochondrial propionyl-CoA carboxylase. PA patients exhibit neurological deficits and multiorgan complications including cardiomyopathy. To investigate the role of mitochondrial dysfunction in the development of these alterations we have used a hypomorphic mouse model of PA that mimics the biochemical and clinical hallmarks of the disease...
July 2016: Free Radical Biology & Medicine
Akila Rajakumar, Ilankumaran Kaliamoorthy, Mettu Srinivas Reddy, Mohamed Rela
Propionic acidemia (PA) is an autosomal recessive disorder of metabolism due to deficiency of the enzyme propionyl-CoA carboxylase (PCC) that converts propionyl-CoA to methylmalonyl-CoA with the help of the cofactor biotin inside the mitochondria. The resultant accumulation of propionyl-CoA causes severe hyperammonaemia and life-threatening metabolic acidosis. Based on the positive outcomes, liver transplantation is now recommended for individuals with recurrent episodes of hyperammonaemia or acidosis that is not adequately controlled with appropriate medical therapies...
January 2016: Indian Journal of Anaesthesia
P Ruiz Sala, G Ruijter, C Acquaviva, A Chabli, M G M de Sain-van der Velden, J Garcia-Villoria, M R Heiner-Fokkema, E Jeannesson-Thivisol, K Leckstrom, L Franzson, G Lynes, J Olesen, W Onkenhout, P Petrou, A Drousiotou, A Ribes, C Vianey-Saban, B Merinero
The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation defects. External quality assurance (EQA) for qualitative and quantitative AC is offered by ERNDIM and CDC in dried blood spots but not in plasma/serum samples. A pilot interlaboratory comparison between 14 European laboratories was performed over 3 years using serum/plasma samples from patients with an established diagnosis of an organic aciduria or fatty acid oxidation defect...
February 23, 2016: JIMD Reports
Helena Moreira Silva, Marie Cécile Nassogne, Françoise Smets, Xavier Stéphenne, Isabelle Scheers, Francis Veyckemans, Thierry Pirotte, Christophe Bourdeaux, Catherine de Magnée, Raymonf Reding, Etienne Sokal
No abstract text is available yet for this article.
November 6, 2014: Journal of Pediatric Gastroenterology and Nutrition
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