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Propionic Acidemia

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Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.

Sultan Aydin Köker, Osman Yeşilbaş, Alper Köker, Esra Şevketoğlu,

Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. ... Read more >>

Arch Argent Pediatr (Archivos argentinos de pediatria)
[2020, 118(2):e174-e177]

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Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.

Jun Kido, Shirou Matsumoto, Kimitoshi Nakamura,

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:4709548]

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Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.

Jun Kido, Shirou Matsumoto, Kimitoshi Nakamura,

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ ... Read more >>

(Case Reports in Pediatrics)
[2020, 2020:]

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Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model

Huimin Na, Stefan Zdraljevic, Robyn Tanny, Albertha J.M. Walhout, Erik Andersen,

ABSTRACT Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they cannot catabolize propionate, leading to its harmful accumulation. Interestingly, both the penetrance and expressivity ... Read more >>

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Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: a case-control study.

Sofiya Gancheva, Daria Caspari, Alessandra Bierwagen, Tomas Jelenik, Sonia Caprio, Nicola Santoro, Maik Rothe, Daniel F Markgraf, Diran Herebian, Jong-Hee Hwang, Soner Öner-Sieben, Jasmin Mennenga, Giovanni Pacini, Eva Thimm, Andrea Schlune, Thomas Meissner, Stephan Vom Dahl, Dirk Klee, Ertan Mayatepek, Michael Roden, Regina Ensenauer,

BACKGROUND:Classical organic acidemias (OAs) result from defective mitochondrial catabolism of branched-chain amino acids (BCAAs). Abnormal mitochondrial function relates to oxidative stress, ectopic lipids and insulin resistance (IR). We investigated whether genetically impaired function of mitochondrial BCAA catabolism associates with cardiometabolic risk factors, altered liver and muscle energy metabolism, and IR. ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, :]

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Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

A Kovacevic, S F Garbade, G F Hoffmann, M Gorenflo, S Kölker, C Staufner,

BACKGROUND:Propionic acidemia (PA) is an organic aciduria caused by inherited deficiency of propionyl-CoA carboxylase. Left ventricular dysfunction and QT prolongation may lead to life-threatening complications. Systematic analyses of cardiac phenotypes, in particular effects of specific cardiac therapies, are scarce. METHODS:In this longitudinal observational monocentric study (data from 1989 to 2017) ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2020, :]

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[Propionic acidemia: clinical diagnosis vs newborn screening].

Inés Félez Moliner, Irene Baquedano Lobera, Alvaro Navarro Rodríguez-Villanueva, Concepción García Jiménez,

Propionic acidemia is a rare metabolic disease (prevalence 1/100,000) that can be early detected with the newborn metabolic screening within the first 72 hours of life. It can have a severe neonatal presentation, a late intermittent onset or a chronic and progressive course. The treatment in the crisis consists in ... Read more >>

Arch Argent Pediatr (Archivos argentinos de pediatria)
[2020, 118(1):e53-e56]

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Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen.

Erica L Wright, Peter R Baker,

PURPOSE:Neonatal macrosomia is a known complication of maternal obesity and gestational diabetes, and it is a risk factor for obesity and diabetes in offspring. Amino acids and acylcarnitines are biomarkers for obesity in children and adults. These analytes, which are also routinely obtained on the newborn screen, have not been ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2020, 105(3):]

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

Richard Curnock, Nigel D Heaton, Hector Vilca-Melendez, Anil Dhawan, Nedim Hadzic, Roshni Vara,

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 ... Read more >>

Liver Transpl. (Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society)
[2020, 26(3):419-430]

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Liver Transplantation for Propionic Acidemia: A Multicenter-linked Database Analysis.

Sophoclis P Alexopoulos, Lea Matsuoka, Einar Hafberg, Thomas Morgan, Cary Thurm, Matt Hall, Justin Godown,

OBJECTIVES:Propionic acidemia (PA) is a rare inborn error of metabolism resulting from deficiency in the enzyme necessary for catabolism of branched-chain amino acids, some odd chain fatty acids and cholesterol. Despite optimal medical management, PA often leads to acute and progressive neurological injury. Reports on liver transplantation (LT) as a ... Read more >>

J. Pediatr. Gastroenterol. Nutr. (Journal of pediatric gastroenterology and nutrition)
[2020, 70(2):178-182]

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Disturbance of bioenergetics and calcium homeostasis provoked by metabolites accumulating in propionic acidemia in heart mitochondria of developing rats.

Ana Cristina Roginski, Alessandro Wajner, Cristiane Cecatto, Simone Magagnin Wajner, Roger Frigério Castilho, Moacir Wajner, Alexandre Umpierrez Amaral,

Propionic acidemia is caused by lack of propionyl-CoA carboxylase activity. It is biochemically characterized by accumulation of propionic (PA) and 3-hydroxypropionic (3OHPA) acids and clinically by severe encephalopathy and cardiomyopathy. High urinary excretion of maleic acid (MA) and 2-methylcitric acid (2MCA) is also found in the affected patients. Considering that ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2020, 1866(5):165682]

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Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.

H A Haijes, J J M Jans, M van der Ham, P M van Hasselt, N M Verhoeven-Duif,

BACKGROUND:Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA and MMA patients over time, to improve insight in which biochemical processes are at play during AMD. METHODS:Longitudinal data from clinical chemistry analyses and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):68]

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Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.

Handuo Wang, Lanlan Meng, Wen Li, Juan Du, Yueqiu Tan, Fei Gong, Guangxiu Lu, Ge Lin, Qianjun Zhang,

Propionic acidemia (PA) is an inborn metabolic error characterized by the accumulation of propionic acid due to deficiency of propionyl-CoA carboxylase (PCC). In this study, we present an intractable case with PCC activity defects. Although next-generation sequencing was applied twice to test genetic defects of the patients, no pathogenic mutations ... Read more >>

Clin. Chim. Acta (Clinica chimica acta; international journal of clinical chemistry)
[2020, 502:153-158]

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Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.

Caroline Tuchmann-Durand, Eloise Thevenet, Florence Moulin, Fabrice Lesage, Juliette Bouchereau, Mehdi Oualha, Diala Khraiche, Anaïs Brassier, Camille Wicker, Stéphanie Gobin-Limballe, Jean-Baptiste Arnoux, Florence Lacaille, Clotilde Wicart, Bruno Coat, Joel Schlattler, Salvatore Cisternino, Sylvain Renolleau, Philippe-Henri Secretan, Pascale De Lonlay,

Beta-hydroxybutyrate (BHB) is a synthetic ketone body used as an adjuvant energy substrate in the treatment of patients with metabolic cardiomyopathy. A medication prescribing error led to the administration of the general anesthetic sodium gamma-hydroxybutyrate (GHB) instead of sodium BHB in a liver transplant recipient with propionic acidemia and cardiomyopathy, ... Read more >>

JIMD Rep (JIMD reports)
[2020, 51(1):25-29]

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Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.

Alejandro Fulgencio-Covián, Esmeralda Alonso-Barroso, Adam J Guenzel, Ana Rivera-Barahona, Magdalena Ugarte, Belén Pérez, Michael A Barry, Celia Pérez-Cerdá, Eva Richard, Lourdes R Desviat,

Cardiac alterations (hypertrophic/dilated cardiomyopathy, and rhythm alterations) are one of the major causes of mortality and morbidity in propionic acidemia (PA), caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC), involved in the catabolism of branched-chain amino acids, cholesterol, and odd-chain fatty acids. Impaired mitochondrial oxidative phosphorylation has ... Read more >>

Transl Res (Translational research : the journal of laboratory and clinical medicine)
[2020, 218:43-56]

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High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry.

Maria L Cotrina, Sindy Ferreiras, Patricia Schneider,

Propionic Acidemia (PA) is characterized by the accumulation of propionic acid (PPA), its toxic derivatives, and ammonia. The disease causes multiorgan damage, especially in heart, pancreas, and brain; seizures and intellectual disability are often described. Some PA children also show autism spectrum disorders (ASD). In this study, we have compiled ... Read more >>

JIMD Rep (JIMD reports)
[2020, 51(1):70-75]

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Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.

Jae Young Choe, Kyung Mi Jang, So Yoon Min, Su Kyeong Hwang, Ben Kang, Byung Ho Choe,

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities-such as hyperammonemia, metabolic acidosis, and ketosis-associated with complaints of vomiting, feeding difficulties, and hypotonia during the neonatal period. However, in rare ... Read more >>

J. Korean Med. Sci. (Journal of Korean medical science)
[2019, 34(47):e303]

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Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Hanneke A Haijes, Femke Molema, Mirjam Langeveld, Mirian C Janssen, Annet M Bosch, Francjan van Spronsen, Margot F Mulder, Nanda M Verhoeven-Duif, Judith J M Jans, Ans T van der Ploeg, Margreet A Wagenmakers, M Estela Rubio-Gozalbo, Martijn C G J Brouwers, Maaike C de Vries, Janneke G Langendonk, Monique Williams, Peter M van Hasselt,

Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clinical course of 76/83 Dutch ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, :]

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Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia.

Amal M Alhashem, Rihab M Salih, Aida I Al-Aqeel, Sarar Mohamed,

OBJECTIVES:To determine the local effects of peripheral Ammonul infusion on the skin and the subcutaneous tissues.  Methods: This retrospective study was conducted at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. All children less than 16 years of age admitted between December 2015 and October 2018 with hyperammonemia and received ... Read more >>

Saudi Med J (Saudi medical journal)
[2020, 41(1):98-101]

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Impact on Isoleucine and Valine Supplementation When Decreasing Use of Medical Food in the Nutritional Management of Methylmalonic Acidemia.

Laurie E Bernstein, Casey Burns, Morgan Drumm, Sommer Gaughan, Melissa Sailer, Peter R Baker,

BACKGROUND:Methylmalonic acidemia (MMA) is an autosomal recessive disorder treated with precursor-free medical food while limiting natural protein. This retrospective chart review was to determine if there was a relationship between medical food, valine (VAL) and/or isoleucine (ILE) supplementation, total protein intake, and plasma amino acid profiles. Methods: A chart review, ... Read more >>

Nutrients (Nutrients)
[2020, 12(2):]

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Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study.

Shailly Jain-Ghai, Ari R Joffe, Gwen Y Bond, Komudi Siriwardena, Alicia Chan, Jason Y K Yap, Morteza Hajihosseini, Irina A Dinu, Bryan V Acton, Charlene M T Robertson, ,

Background:Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression. Liver transplantation improves the biochemical abnormality and patient survival is good. We report the neurocognitive and functional outcomes post-transplant for nine UCD, three ... Read more >>

JIMD Rep (JIMD reports)
[2020, 52(1):43-54]

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Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report.

Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Zhi-Jun Zhu, Hai-Bo Wang, Li-Ying Sun,

BACKGROUND:Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. So far, the epidemiological data on them are limited in China. The aim of our study is to investigate the proportion and characteristics of hospitalized pediatric patients with MMA and PA in ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):292]

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Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia.

M Tamayo, A Fulgencio-Covián, J A Navarro-García, A Val-Blasco, G Ruiz-Hurtado, M Gil-Fernández, L Martín-Nunes, J A Lopez, L R Desviat, C Delgado, E Richard, M Fernández-Velasco,

Propionic acidemia (PA) is a rare metabolic disease associated with mutations in genes encoding the α and β subunits of the enzyme propionyl-CoA carboxylase. The accumulation of toxic metabolites results in mitochondrial dysfunction, increased reactive oxygen species production and oxidative damage, which have been associated with the disease pathophysiology. Clinical ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2020, 1866(1):165586]

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Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.

William B Hannah, Katherine J Dempsey, Lori-Anne P Schillaci, Michael Zacharias, Shawn E McCandless, Anthony Wynshaw-Boris, Laura L Konczal, Jirair K Bedoyan,

Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic decompensation and another ... Read more >>

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 21:100537]

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Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Nishitha R Pillai, Bridget M Stroup, Anna Poliner, Linda Rossetti, Brandy Rawls, Brian J Shayota, Claudia Soler-Alfonso, Hari Priya Tunuguntala, John Goss, William Craigen, Fernando Scaglia, V Reid Sutton, Ryan Wallace Himes, Lindsay C Burrage,

BACKGROUND:Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated by unrestricted protein intake. Implementation of newborn screening to diagnose and initiate ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2019, 128(4):431-443]

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