11 results match your criteria Metabolic Disease and Stroke - Propionic Acidemia

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Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Am J Med Genet A 2022 May 23;188(5):1443-1447. Epub 2022 Jan 23.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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. Read More

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Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.

Am J Transplant 2021 04 27;21(4):1637-1640. Epub 2020 Dec 27.

Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.

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. Read More

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Liver Transplantation in Children With Propionic Acidemia: Medium-Term Outcomes.

Liver Transpl 2020 03 3;26(3):419-430. Epub 2020 Feb 3.

Paediatric Inherited Metabolic Diseases, Evelina Children's Hospital, London, United Kingdom.

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). Read More

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Neurologic considerations in propionic acidemia.

Mol Genet Metab 2012 Jan 19;105(1):10-5. Epub 2011 Oct 19.

Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.

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. Read More

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January 2012

Natural history of propionic acidemia.

Mol Genet Metab 2012 Jan 22;105(1):5-9. Epub 2011 Sep 22.

University of Illinois College of Medicine at Chicago, Chicago, IL, USA.

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. Read More

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January 2012

Chronic management and health supervision of individuals with propionic acidemia.

Mol Genet Metab 2012 Jan 10;105(1):26-33. Epub 2011 Sep 10.

Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA.

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. Read More

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January 2012

Liver transplantation for propionic acidemia in children.

Liver Transpl 2011 Jun;17(6):661-7

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. Read More

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

Neuropediatrics 2009 Apr 6;40(2):76-81. Epub 2009 Oct 6.

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. Read More

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Inherited metabolic disorders and cerebral infarction.

Expert Rev Neurother 2008 Nov;8(11):1731-41

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. Read More

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November 2008

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

J Pediatr 2007 Feb;150(2):192-7, 197.e1

Clinical Department of Pediatric Cardiology, Innsbruck Medical University, Innsbruck, Austria.

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. Read More

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February 2007
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