Results 61 to 70 of about 11,139 (183)

Unveiling the complexities: A case report on complications arising from propionic acidemia

Liaquat Medical Research Journal
Propionic acidemia is a rare inherited metabolic disorder caused by a defect in propionyl-coenzyme A (CoA) carboxylase, resulting in the accumulation of propionic acid.
Imran Uddin, Rafat Jan
doaj   +1 more source

Novel mutations of PCCA and PCCB genes found by whole-exome sequencing related to propionic acidemia patients

European Journal of Biological Research, 2022
Propionic acidemia (PROP) is an autosomal recessive inherited metabolic deficiency caused by multimeric mitochondrial enzyme propionyl‐coenzyme A (CoA) carboxylase (PCC).
Sajad Rafiee Komachali, Zakieh Siahpoosh, Sara Rafiee Komachali, Dor Mohammad Kordi Tamandani, Mansoor Salehi   +4 more
doaj  

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia

Journal of Medical Case Reports
Background Methylmalonic acidemia is a very rare genetic metabolic disease. Patients with isolated methylmalonic acidemia typically present with acute alterations of consciousness, failure to thrive, anorexia, vomiting, respiratory distress, and muscular
Zahra Hakimzadeh, Abolfazl Gilani, Parsa Yousefichaijan, Roham Sarmadian   +3 more
doaj   +1 more source

The Acidemia Index: A Near Real-Time Risk Analytics Algorithm is Associated With Measured Acidemia in Pediatric Critical Care Patients, a Multi-Center Validation Study

Critical Care Explorations
OBJECTIVES:. Acidemia frequently evolves in pediatric critical care patients, especially with congenital heart defects. Worsening acidemia secondary to inadequate systemic oxygen delivery can be detrimental to patients’ outcomes and the ability to ...
Ahmed Asfari, MD, Avihu Z. Gazit, MD, Craig Futterman, MD, Robert B. Kelly, MD, Andrew Macfadyen, MD, David S. Copper, MD, Joshua W. Salvin, MD, Adam Szadkowski, MD, Santiago Borasino, MD, Joshua Wolovits, MD, Hayden J. Zaccagni, MD   +10 more
doaj   +1 more source

A Case Report of Isovaleric Acidemia without Acidosis

Case Reports in Clinical Practice
The deficiency of isovaleryl-CoA dehydrogenase leads to an inborn recessive error of leucine metabolism named isovaleric acidemia (IVA). Its presentation may be either in the neonatal period as an acute episode of metabolic acidosis or later as a ...
Mahtab Ordooei, Razieh Fallah, Maryam Saeida-Ardekani, Fahimeh Soheilipour, Mahdieh Yavari, Mahta Mazaheri   +5 more
doaj   +1 more source

Commentary: Computerised interpretation of fetal heart rate during labour (INFANT): a randomised controlled trial

Frontiers in Physiology, 2017
Martin G. Frasch, Geraldine B. Boylan, Geraldine B. Boylan, Hau-tieng Wu, Declan Devane, Declan Devane   +5 more
doaj   +1 more source

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

JIMD Reports
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.
Brandon K. Walther, Brittany M. Murray, Poornima Pandiyan, Randall Ray, Laura Yeoh, Amy Kritzer   +5 more
doaj   +1 more source

Diagnostic utility of capnography in emergency department triage for screening acidemia: a pilot study

International Journal of Emergency Medicine
Background Capnography is a quantitative and reliable method of determining the ventilatory status of patients. We describe the test characteristics of capnography obtained during Emergency Department triage for screening acidemia.
Paul Peng, Alex F. Manini
doaj   +1 more source

Neonatal onset propionic acidemia without acidosis: a case report

The Turkish Journal of Pediatrics, 2002
Propionic acidemia is an inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. The usual presentation is life-threatening ketoacidosis and hyperammonemia.
Ipek Akman, Sebahat Imamoğlu, Mübeccel Demirkol, Harika Alpay, Eren Ozek   +4 more
doaj  

An atypical presentation in a child with propionic acidemia? Better think twice!

JIMD Reports
This report details the case of an infant with confirmed propionic acidemia who presented with progressive neurological deterioration and recurrent episodes of metabolic decompensation with elevated lactate levels, but without hyperammonemia. The child's
Tim Burkhardt, Katharine L. Kastor, Stine Christ, Thomas Opladen, Christian Staufner, Stefanie Beck‐Wödl, Tobias Haack, Maja Hempel, Angelika Seitz, Stefan Kölker   +9 more
doaj   +1 more source