14 results match your criteria: "Metabolic Disease and Stroke - Propionic Acidemia"

Article Synopsis
  • Liver transplantation (LDLT) can effectively treat children with propionic acidemia (PA), showing a 100% survival rate in a study of 12 patients.
  • The study compared outcomes based on the timing of LDLT, dividing patients into groups based on whether the surgery occurred within a year of their first metabolic decompensation or later.
  • Early LDLT may prevent complications like cardiomyopathy and neurological issues, despite later patients showing some pre-existing conditions and post-surgery developmental challenges.
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Pathophysiological mechanisms of complications associated with propionic acidemia.

Pharmacol Ther

September 2023

Sarah W. Stedman Nutrition and Metabolism Center & Duke Molecular Physiology Institute, Duke University, Durham, NC 27701, USA; Department of Medicine, Division of Endocrinology, and Metabolism Nutrition, Duke University Medical Center, Durham, NC 27710, USA. Electronic address:

Propionic acidemia (PA) is a genetic metabolic disorder caused by mutations in the mitochondrial enzyme, propionyl-CoA carboxylase (PCC), which is responsible for converting propionyl-CoA to methylmalonyl-CoA for further metabolism in the tricarboxylic acid cycle. When this process is disrupted, propionyl-CoA and its metabolites accumulate, leading to a variety of complications including life-threatening cardiac diseases and other metabolic strokes. While the clinical symptoms and diagnosis of PA are well established, the underlying pathophysiological mechanisms of PA-induced diseases are not fully understood.

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Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study.

Mol Genet Metab

December 2022

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address:

Background: In propionic acidemia (PA) myocardial involvement is common and includes development of cardiomyopathy, life-threatening acute heart failure, and acquired long-QT syndrome. We sought to investigate which echocardiographic parameters of left ventricular systolic and diastolic function indicate early cardiac disease manifestation in PA.

Methods: This is a prospective observational study (cross-sectional design) in a Tertiary Medical Care Center.

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Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience with LT in IEMs. Our objective is to assess the outcomes of IEM patients who have undergone LT, which we hypothesize to be generally successful for prevention of metabolic decompensation.

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Propionic acidemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of propionyl CoA carboxylase which often manifests with frequent metabolic decompensations and risk of neurological injury. Outcomes with medical therapy remain suboptimal. Liver transplantation has been shown to be a therapeutic option for patients and results in a milder phenotype of the disease and partial correction of the enzyme defect.

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Liver transplantation (LT) for patients with propionic acidemia (PA) is an emerging therapeutic option. We present a retrospective review of patients with PA who underwent LT at a tertiary liver center between 1995 and 2015. A total of 14 children were identified (8 males) with median age at initial presentation of 3 days (range, 0-77 days).

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Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities. As the PA consensus conference hosted by Children's National Medical Center progressed from January 28 to 30, 2011, it became evident that neurological complications were common and a major component of morbidity, but the role of imaging and the basis for brain pathophysiology were unclear. This paper reviews the hypothesized pathophysiology, presentation and uses the best available evidence to suggest programs for treatment, imaging, and monitoring the neurological complications of PA.

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Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages.

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Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy; however, there is little information about the incidence of these problems in this rare disease.

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Liver transplantation for propionic acidemia in children.

Liver Transpl

June 2011

Paediatric Liver, Gastrointestinal, and Nutrition Centre, King's College Hospital, London, United Kingdom.

Propionic acidemia (PA) is a rare inherited disorder of branched chain amino acid metabolism; despite improvements in conventional medical management, the long-term outcome remains disappointing. Liver transplantation (LT) has been proposed to minimize the risk of further metabolic decompensations and to improve the quality of life. We performed a retrospective review of all children with PA who underwent LT between 1987 and 2008.

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Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation.

Neuropediatrics

April 2009

Innsbruck Medical University Innsbruck, Department of Pediatrics IV, Division of Neuropediatrics and Inherited Metabolic Disorders, Innsbruck, Austria.

Propionic acidemia caused by propionyl-CoA carboxylase deficiency frequently leads to neurologic complications. Herein we report an eleven-year-old patient with propionic acidemia having three stroke-like episodes during a period of 13 months characterized by acute reversible hemiplegia and vegetative symptoms like bradycardia or drowsiness. No biochemical signs of severe metabolic decompensation were detectable in plasma.

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Inherited metabolic disorders and cerebral infarction.

Expert Rev Neurother

November 2008

Department of Neurology, University of South Florida College of Medicine, Tampa, FL 33606, USA.

The association of genetic factors and cerebral infarction (CI) has long been established. A positive family history alone is a recognized risk factor for CI and vascular events in general. However, there are certain inherited conditions that further increase the risk of stroke.

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Objective: To investigate electrophysiological and functional signs of myocardial damage in patients with propionic acidemia (PA), an inborn error of metabolism caused by deficiency of propionyl CoA carboxylase (PCC).

Study Design: In an observational longitudinal study 10 patients with PA (6 boys and 4 girls) ranging between 2.5 and 20.

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