Results 1 to 10 of about 2,281 (194)

Cardiac Complications of Propionic and Other Inherited Organic Acidemias [PDF]

Frontiers in Cardiovascular Medicine, 2020
Clinical observations and experimental studies have determined that systemic acid-base disturbances can profoundly affect the heart. A wealth of information is available on the effects of altered pH on cardiac function but, by comparison, much less is ...
Kyung Chan Park, Steve Krywawych, Eva Richard, Lourdes R. Desviat, Pawel Swietach   +4 more
doaj   +8 more sources

Prenatal diagnosis of organic acidemias at a tertiary center [PDF]

Balkan Journal of Medical Genetics, 2019
The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the ...
Tanacan A, Gurbuz BB, Aydin E, Erden M, Coskun T, Beksac MS   +5 more
doaj   +5 more sources

Fully Automated Quantitative Measurement of Serum Organic Acids via LC-MS/MS for the Diagnosis of Organic Acidemias: Establishment of an Automation System and a Proof-of-Concept Validation [PDF]

Diagnostics, 2021
Gas chromatography-mass spectrometry has been widely used to analyze hundreds of organic acids in urine to provide a diagnostic basis for organic acidemia.
Yasushi Ueyanagi, Daiki Setoyama, Daisuke Kawakami, Yuichi Mushimoto, Shinya Matsumoto, Taeko Hotta, Dongchon Kang   +6 more
doaj   +2 more sources

Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias [PDF]

Molecular Genetics and Metabolism Reports, 2021
Background: Classic organic acidurias (OAs) usually characterized by recurrent episodes of acidemia, ketonuria, and hyperammonemia leading to coma and even death if left untreated.
Ertugrul Kiykim, Ozge Oguz, Cisem Duman, Tanyel Zubarioglu, Mehmet Serif Cansever, Ayse Cigdem Aktuglu Zeybek   +5 more
doaj   +2 more sources

¹H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies [PDF]

Metabolites, 2021
The utility of low-resolution 1H-NMR analysis for the identification of biomarkers provided evidence for rapid biochemical diagnoses of organic acidemia and aminoacidopathy.
Ninna Pulido, Johana M. Guevara-Morales, Alexander Rodriguez-López, Álvaro Pulido, Jhon Díaz, Ru Angelie Edrada-Ebel, Olga Y. Echeverri-Peña   +6 more
doaj   +2 more sources

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience [PDF]

International Journal of Neonatal Screening, 2022
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation.
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu   +49 more
doaj   +6 more sources

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening [PDF]

Molecular Genetics and Metabolism Reports, 2018
Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly ...
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi   +17 more
doaj   +2 more sources

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study [PDF]

Scientific Reports
Organic acidemias (OADs) are a group of congenital metabolic disorders whose incidence, disease spectrum, and genetic profiles differ greatly across countries. This study aimed to determine the characteristics of OADs in Quanzhou, China.
Yiming Lin, Chunmei Lin, Zhenzhu Zheng, Yanru Chen, Faming Zheng, Weihua Lin   +5 more
doaj   +2 more sources

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review. [PDF]

JIMD Rep
ABSTRACT Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐year‐old child with cblB disorder who developed acute cardiomyopathy (CM).
Said D, Al Shamsi A.
europepmc   +2 more sources

Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature [PDF]

JIMD Rep
ABSTRACT Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl‐CoA carboxylase that results in the build‐up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are
Walther B, Murray B, Pandiyan P, Ray R, Yeoh L, Kritzer A.   +5 more
europepmc   +2 more sources