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Acquired carnitine deficiency

Jan Václavík, Karlien L M Coene, Ivo Vrobel, Lukáš Najdekr, David Friedecký, Radana Karlíková, Lucie Mádrová, Aleksanteri Petsalo, Udo F H Engelke, Annemiek van Wegberg, Leo A J Kluijtmans, Tomáš Adam, Ron A Wevers
Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. This is a proof-of-concept study testing this methodology to determine the molecular structure of as yet uncharacterized m/z signals that were significantly increased in plasma samples from patients with phenylketonuria and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency...
November 14, 2017: Journal of Inherited Metabolic Disease
Cathy Payne, Philip J Wiffen, Suzanne Martin
BACKGROUND: Fatigue and unintentional weight loss are two of the commonest symptoms experienced by people with advanced progressive illness. Appropriate interventions may bring considerable improvements in function and quality of life to seriously ill people and their families, reducing physical, psychological and spiritual distress. OBJECTIVES: To conduct an overview of the evidence available on the efficacy of interventions used in the management of fatigue and/or unintentional weight loss in adults with advanced progressive illness by reviewing the evidence contained within Cochrane reviews...
April 7, 2017: Cochrane Database of Systematic Reviews
Johannes Sander, Michael Terhardt, Stefanie Sander, Nils Janzen
L-α-amino-methylenecyclopropyl propionic acid (Hypoglycin A, HGA) has been found to be the toxic compound in fruits of the Sapindaceae family causing acute intoxication when ingested as food or feed. Clinical symptoms are consistent with acquired multiple acyl-CoA dehydrogenase deficiency (MADD). Ultra performance liquid chromatography-tandem mass spectrometry was used to measure HGA after butylation. Sample volumes were 10μL for serum and 20μL for urine. Internal standard for HGA was d3-leucine, samples were plotted on a 7-point linear calibration curve...
September 1, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
A Żuraw, K Dietert, S Kühnel, J Sander, R Klopfleisch
REASONS FOR PERFORMING STUDY: Evidence suggest there is a link between equine atypical myopathy (EAM) and ingestion of sycamore maple tree seeds. OBJECTIVES: To further evaluate the hypothesis that the ingestion of hypoglycin A (HGA) containing sycamore maple tree seeds causes acquired multiple acyl-CoA dehydrogenase deficiency and might be associated with the clinical and pathological signs of EAM. STUDY DESIGN: Case report. METHODS: Necropsy and histopathology, using hematoxylin and eosin and Sudan III stains, were performed on a 2...
July 2016: Equine Veterinary Journal
Ricardo A Cruciani, Manuel Revuelta, Ella Dvorkin, Peter Homel, Pauline Lesage, Nora Esteban-Cruciani
BACKGROUND: The purpose of this study was to determine the effect of L-carnitine supplementation on fatigue in patients with terminal human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). METHODS: In this randomized, double-blind, placebo-controlled, parallel-group study, patients who had end-stage HIV/AIDS with carnitine deficiency and fatigue received 3 g of oral L-carnitine or placebo for 2 weeks, followed by a 2-week, open-label phase with the same amount of L-carnitine for all patients...
2015: HIV/AIDS: Research and Palliative Care
Emanuela Scolamiero, Guglielmo Rosario Domenico Villani, Laura Ingenito, Rita Pecce, Lucia Albano, Marianna Caterino, Maria Grazia di Girolamo, Cristina Di Stefano, Ignazio Franzese, Giovanna Gallo, Margherita Ruoppolo
OBJECTIVES: Besides the inherited form, vitamin B(12) deficiency may be due to diet restrictions or abnormal absorption. The spread of newborn screening programs worldwide has pointed out that non-inherited conditions are mainly secondary to a maternal deficiency. The aim of our work was to study seven cases of acquired vitamin B12 deficiency detected during our newborn screening project. Moreover, we aimed to evaluate vitamin B(12) and related biochemical parameters status on delivering female to verify the consequences on newborns of eventually altered parameters...
December 2014: Clinical Biochemistry
H El-Mesellamy, A S Gouda, E Fateen, S S Zaki
Acylcarnitine profile (ACP) is a useful tool in the biochemical diagnosis and monitoring of many acquired and inherited metabolic disorders. In the present study, acylcarnitines (ACs) were quantified in dried blood spot samples collected from 150 high risk Egyptian newborns and children using LC/MS/MS technique. They were referred to the Biochemical Genetics department in the National Research Center. Their age ranged from 1 to 36 months. Thirty seven patients had abnormal ACP diagnostic of some inherited metabolic disorders and other acquired conditions...
2014: Bratislavské Lekárske Listy
L C Kranenburg, C M Westermann, M G M de Sain-van der Velden, E de Graaf-Roelfsema, J Buyse, G P J Janssens, J van den Broek, J H van der Kolk
BACKGROUND: Insulin resistance in horses is an emerging field of interest as it is thought to be a contributing factor in the pathogenesis of many equine conditions. OBJECTIVES: The objectives of the present study were to determine the effects of long-term oral administration of L-carnitine on insulin sensitivity, glucose disposal, plasma leptin concentrations and acylcarnitine spectrum both in plasma and urine. ANIMALS AND METHODS: Six 3-year-old healthy warmblood geldings were used...
2014: Veterinary Quarterly
Monica Masoero, Michela Bellocchia, Antonio Ciuffreda, Fabio Lm Ricciardolo, Giovanni Rolla, Caterina Bucca
We present a woman with heterozygous carnitine palmitoyl transferase 2 (CPT-2) deficiency who in the last 6 months suffered from episodic dyspnea and choking. Symptoms could not be attributed to her muscular energy defect, since heterozygous CPT-2 deficiency is usually asymptomatic or causes only mild muscle fatigability. Myopathy is usually triggered by concurrent factors, either genetic (additional muscle enzymes defects) or acquired (metabolic stress). The patient was referred to our respiratory clinic for suspect bronchial asthma...
May 2014: Allergy, Asthma & Immunology Research
Monika Dąbrowska, Małgorzata Starek
l-Carnitine is a vitamin-like amino acid derivative, which is an essential factor in fatty acid metabolism as acyltransferase cofactor and in energy production processes, such as interconversion in the mechanisms of regulation of cetogenesis and termogenesis, and it is also used in the therapy of primary and secondary deficiency, and in other diseases. The determination of carnitine and acyl-carnitines can provide important information about inherited or acquired metabolic disorders, and for monitoring the biochemical effect of carnitine therapy...
January 1, 2014: Food Chemistry
Cathy Payne, Philip J Wiffen, Suzanne Martin
BACKGROUND: Fatigue and unintentional weight loss are two of the commonest symptoms experienced by people with advanced progressive illness. Appropriate interventions may bring considerable improvements in function and quality of life to seriously ill people and their families, reducing physical, psychological and spiritual distress. OBJECTIVES: To conduct an overview of the evidence available on the efficacy of interventions used in the management of fatigue and/or unintentional weight loss in adults with advanced progressive illness by reviewing the evidence contained within Cochrane reviews...
January 18, 2012: Cochrane Database of Systematic Reviews
Heyun Kim, Kon Chu, Keun-Hwa Jung, Soon-Tae Lee, Jeong-Min Kim, Sang Kun Lee
We describe a 47-year-old woman who presented with palinopsia and subacute altered mental change after cefditoren pivoxil administration. The patient showed characteristic clinical manifestations of hypocarnitinemia, which affected her state of consciousness and she had radiologic findings that revealed metabolic encephalopathy with cytotoxic edema in the right occipital area and intracranial hemorrhages in right occipital and left frontal areas. Follow-up imaging after oral carnitine supplementation demonstrated complete resolution of the bilateral frontal subcortical T2 high-intensity lesions...
December 2012: Neurological Sciences
J H van der Kolk, I D Wijnberg, C M Westermann, L Dorland, M G M de Sain-van der Velden, L C Kranenburg, M Duran, J A Dijkstra, J J van der Lugt, R J A Wanders, E Gruys
This case-series describes fourteen horses suspected of equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) also known as atypical myopathy of which seven cases were confirmed biochemically with all horses having had access to leaves of the Maple tree (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum). Assessment of organic acids, glycine conjugates, and acylcarnitines in urine was regarded as gold standard in the biochemical diagnosis of equine acquired multiple acyl-CoA dehydrogenase deficiency...
October 2010: Molecular Genetics and Metabolism
Julia B Hennermann, Sylvia Roloff, Jutta Gellermann, Annette Grüters, Jeannette Klein
Glutaric aciduria type I (GA I), an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase, leads to encephalopathic crises resulting in irreversible neurological damage. As early diagnosis and implementation of appropriate treatment has significant benefit for these patients, GA I has been implemented in the extended newborn screening program in several countries. Screening parameter is glutarylcarnitine (C5DC) with its ratios. From 1 January 2005 until 31 December 2008, 173,846 newborns were examined by neonatal screening in our screening center...
December 2009: Journal of Inherited Metabolic Disease
Sven Wolfgang Sauer, Juergen G Okun, Georg F Hoffmann, Stefan Koelker, Marina A Morath
Accumulation of organic acids as well as their CoA and carnitine esters in tissues and body fluids is a common finding in organic acidurias, beta-oxidation defects, Reye syndrome, and Jamaican vomiting sickness. Pathomechanistic approaches for these disorders have been often focused on the effect of accumulating organic acids on mitochondrial energy metabolism, whereas little is known about the pathophysiologic role of short- and medium-chain acyl-CoAs and acylcarnitines. Therefore, we investigated the impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on central components of mitochondrial energy metabolism, namely alpha-ketoglutarate dehydrogenase complex, pyruvate dehydrogenase complex, and single enzyme complexes I-V of respiratory chain...
October 2008: Biochimica et Biophysica Acta
C M Westermann, L Dorland, D M Votion, M G M de Sain-van der Velden, I D Wijnberg, R J A Wanders, W G M Spliet, N Testerink, R Berger, J P N Ruiter, J H van der Kolk
The aim of the current study was to assess lipid metabolism in horses with atypical myopathy. Urine samples from 10 cases were subjected to analysis of organic acids, glycine conjugates, and acylcarnitines revealing increased mean excretion of lactic acid, ethylmalonic acid, 2-methylsuccinic acid, butyrylglycine, (iso)valerylglycine, hexanoylglycine, free carnitine, C2-, C3-, C4-, C5-, C6-, C8-, C8:1-, C10:1-, and C10:2-carnitine as compared with 15 control horses (12 healthy and three with acute myopathy due to other causes)...
May 2008: Neuromuscular Disorders: NMD
C Le Tourneau, E Raymond, S Faivre
The marine ecosystem that has contributed to the discovery of cytarabine and its fluorinated derivative gemcitabine is now considered the most productive toll to acquire new natural derived anticancer entities. Few marine anticancer agents have entered clinical development, including bryostatin-1, dolastatin 10, LU103793, ET-743, kahalalide F, didemnin B and aplidine. The marine plitidepsin aplidine derived from the mediterranean tunicate Aplidium albicans is a synthetically produced anticancer agent that is structurally related to didemnins...
2007: Current Pharmaceutical Design
Laurène Cagnon, Olivier Braissant
In pediatric patients, hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle deficiencies or organic acidemias. The brain is much more susceptible to the deleterious effects of ammonium during development than in adulthood. Hyperammonemia can provoke irreversible damages to the developing central nervous system that lead to cortical atrophy, ventricular enlargement and demyelination, responsible for cognitive impairment, seizures and cerebral palsy. Until recently, the mechanisms leading to these irreversible cerebral damages were poorly understood...
November 2007: Brain Research Reviews
C M Westermann, M G M de Sain-van der Velden, J H van der Kolk, R Berger, I D Wijnberg, J P Koeman, R J A Wanders, J A Lenstra, N Testerink, A B Vaandrager, C Vianey-Saban, C Acquaviva-Bourdain, L Dorland
Two horses (a 7-year-old Groninger warmblood gelding and a six-month-old Trakehner mare) with pathologically confirmed rhabdomyolysis were diagnosed as suffering from multiple acyl-CoA dehydrogenase deficiency (MADD). This disorder has not been recognised in animals before. Clinical signs of both horses were a stiff, insecure gait, myoglobinuria, and finally recumbency. Urine, plasma, and muscle tissues were investigated. Analysis of plasma showed hyperglycemia, lactic acidemia, increased activity of muscle enzymes (ASAT, LDH, CK), and impaired kidney function (increased urea and creatinine)...
August 2007: Molecular Genetics and Metabolism
Kathleen A Head
Peripheral neuropathy (PN), associated with diabetes, neurotoxic chemotherapy, human immunodeficiency virus (HIV)/antiretroviral drugs, alcoholism, nutrient deficiencies, heavy metal toxicity, and other etiologies, results in significant morbidity. Conventional pain medications primarily mask symptoms and have significant side effects and addiction profiles. However, a widening body of research indicates alternative medicine may offer significant benefit to this patient population. Alpha-lipoic acid, acetyl-L-carnitine, benfotiamine, methylcobalamin, and topical capsaicin are among the most well-researched alternative options for the treatment of PN...
December 2006: Alternative Medicine Review: a Journal of Clinical Therapeutic
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