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  1. Article ; Online: Disorders of fatty acid homeostasis.

    Vaz, Frédéric M / Ferdinandusse, Sacha / Salomons, Gajja S / Wanders, Ronald J A

    Journal of inherited metabolic disease

    2024  

    Abstract: Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl-CoA, although some FA are solely derived from exogenous sources ("essential FA"). Once inside cells, FA may undergo a wide variety of different ... ...

    Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl-CoA, although some FA are solely derived from exogenous sources ("essential FA"). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of double bonds, the 2- and ω-hydroxylation and chain elongation, thereby generating a cellular FA pool which can be used for the synthesis of more complex lipids. The biological properties of complex lipids are very much determined by their molecular composition in terms of the FA incorporated into these lipid species. This immediately explains the existence of a range of genetic diseases in man, often with severe clinical consequences caused by variants in one of the many genes coding for enzymes responsible for these FA modifications. It is the purpose of this review to describe the current state of knowledge about FA homeostasis and the genetic diseases involved. This includes the disorders of FA activation, desaturation, 2- and ω-hydroxylation, and chain elongation, but also the disorders of FA breakdown, including disorders of peroxisomal and mitochondrial α- and β-oxidation.
    Language English
    Publishing date 2024-05-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12734
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  2. Article: Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders.

    Wanders, Ronald J A / Vaz, Frédéric M / Waterham, Hans R / Ferdinandusse, Sacha

    Advances in experimental medicine and biology

    2021  Volume 1299, Page(s) 55–70

    Abstract: Peroxisomes play a central role in metabolism as exemplified by the fact that many genetic disorders in humans have been identified through the years in which there is an impairment in one or more of these peroxisomal functions, in most cases associated ... ...

    Abstract Peroxisomes play a central role in metabolism as exemplified by the fact that many genetic disorders in humans have been identified through the years in which there is an impairment in one or more of these peroxisomal functions, in most cases associated with severe clinical signs and symptoms. One of the key functions of peroxisomes is the β-oxidation of fatty acids which differs from the oxidation of fatty acids in mitochondria in many respects which includes the different substrate specificities of the two organelles. Whereas mitochondria are the main site of oxidation of medium-and long-chain fatty acids, peroxisomes catalyse the β-oxidation of a distinct set of fatty acids, including very-long-chain fatty acids, pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic acid. Peroxisomes require the functional alliance with multiple subcellular organelles to fulfil their role in metabolism. Indeed, peroxisomes require the functional interaction with lysosomes, lipid droplets and the endoplasmic reticulum, since these organelles provide the substrates oxidized in peroxisomes. On the other hand, since peroxisomes lack a citric acid cycle as well as respiratory chain, oxidation of the end-products of peroxisomal fatty acid oxidation notably acetyl-CoA, and different medium-chain acyl-CoAs, to CO
    MeSH term(s) Fatty Acids/metabolism ; Humans ; Lipid Metabolism ; Oxidation-Reduction ; Peroxisomal Disorders/enzymology ; Peroxisomal Disorders/metabolism ; Peroxisomes/enzymology ; Peroxisomes/metabolism
    Chemical Substances Fatty Acids
    Language English
    Publishing date 2021-01-08
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-3-030-60204-8_5
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  3. Article ; Online: The physiological functions of human peroxisomes.

    Wanders, Ronald J A / Baes, Myriam / Ribeiro, Daniela / Ferdinandusse, Sacha / Waterham, Hans R

    Physiological reviews

    2022  Volume 103, Issue 1, Page(s) 957–1024

    Abstract: Peroxisomes are subcellular organelles that play a central role in human physiology by catalyzing a range of unique metabolic functions. The importance of peroxisomes for human health is exemplified by the existence of a group of usually severe diseases ... ...

    Abstract Peroxisomes are subcellular organelles that play a central role in human physiology by catalyzing a range of unique metabolic functions. The importance of peroxisomes for human health is exemplified by the existence of a group of usually severe diseases caused by an impairment in one or more peroxisomal functions. Among others these include the Zellweger spectrum disorders, X-linked adrenoleukodystrophy, and Refsum disease. To fulfill their role in metabolism, peroxisomes require continued interaction with other subcellular organelles including lipid droplets, lysosomes, the endoplasmic reticulum, and mitochondria. In recent years it has become clear that the metabolic alliance between peroxisomes and other organelles requires the active participation of tethering proteins to bring the organelles physically closer together, thereby achieving efficient transfer of metabolites. This review intends to describe the current state of knowledge about the metabolic role of peroxisomes in humans, with particular emphasis on the metabolic partnership between peroxisomes and other organelles and the consequences of genetic defects in these processes. We also describe the biogenesis of peroxisomes and the consequences of the multiple genetic defects therein. In addition, we discuss the functional role of peroxisomes in different organs and tissues and include relevant information derived from model systems, notably peroxisomal mouse models. Finally, we pay particular attention to a hitherto underrated role of peroxisomes in viral infections.
    MeSH term(s) Animals ; Mice ; Humans ; Social Group
    Language English
    Publishing date 2022-08-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 209902-0
    ISSN 1522-1210 ; 0031-9333
    ISSN (online) 1522-1210
    ISSN 0031-9333
    DOI 10.1152/physrev.00051.2021
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  4. Article ; Online: Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.

    Monda, Emanuele / Bakalakos, Athanasios / Syrris, Petros / Mohiddin, Saidi / Ferdinandusse, Sacha / Murphy, Elaine / Elliott, Perry Mark

    European journal of medical genetics

    2023  Volume 66, Issue 12, Page(s) 104885

    Abstract: Background: Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few months of life. Our aim was to describe the clinical, biochemical, and ... ...

    Abstract Background: Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few months of life. Our aim was to describe the clinical, biochemical, and genetic characteristics of patients with later-onset MLYCDD.
    Methods: Clinical and biochemical characteristics of two patients aged 48 and 29 years with a confirmed molecular diagnosis of MLYCDD were examined. A systematic review of published studies describing the characteristics of cardiovascular involvement of patients with MLYCDD was performed.
    Results: Two patients diagnosed with MLYCDD during adulthood were identified. The first presented with hypertrophic cardiomyopathy and ventricular pre-excitation and the second with dilated cardiomyopathy (DCM) and mild-to-moderate left ventricular (LV) systolic dysfunction. No other clinical manifestation typical of MLYCDD was observed. Both patients showed slight increase in malonylcarnitine in their plasma acylcarnitine profile, and a reduction in malonyl-CoA decarboxylase activity. During follow-up, no deterioration of LV systolic function was observed. The systematic review identified 33 individuals with a genetic diagnosis of MLYCDD (median age 6 months [IQR 1-12], 22 males [67%]). Cardiovascular involvement was observed in 64% of cases, with DCM the most common phenotype. A modified diet combined with levocarnitine supplementation resulted in the improvement of LV systolic function in most cases. After a median follow-up of 8 months, 3 patients died (two heart failure-related and one arrhythmic death).
    Conclusions: For the first time this study describes a later-onset phenotype of MLYCDD patients, characterized by single-organ involvement, mildly reduced enzyme activity, and a benign clinical course.
    MeSH term(s) Male ; Humans ; Adult ; Infant ; Methylmalonic Acid ; Cardiomyopathy, Hypertrophic ; Metabolism, Inborn Errors/genetics ; Cardiomyopathy, Dilated
    Chemical Substances Methylmalonic Acid (8LL8S712J7) ; acylcarnitine
    Language English
    Publishing date 2023-11-17
    Publishing country Netherlands
    Document type Systematic Review ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2023.104885
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  5. Article ; Online: Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

    Crefcoeur, Loek L / Visser, Gepke / Ferdinandusse, Sacha / Wijburg, Frits A / Langeveld, Mirjam / Sjouke, Barbara

    Journal of inherited metabolic disease

    2022  Volume 45, Issue 3, Page(s) 386–405

    Abstract: A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in newborn screening ( ... ...

    Abstract A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in newborn screening (NBS) programs has led to the identification of an increasing number of PCD patients, including mothers of screened newborns, who may show a different phenotype compared to clinically diagnosed patients. To elucidate the spectrum of signs and symptoms in PCD patients, we performed a structured literature review. Using a case-by-case approach, clinical characteristics, diagnostic data, and mode of patient identification were recorded. Signs and symptoms were categorized by organ involvement. In total, 166 articles were included, reporting data on 757 individual patients. In almost 20% (N = 136) of the cases, the diagnosis was based solely on low carnitine concentration which we considered an uncertain diagnosis of PCD. The remaining 621 cases had a diagnosis based on genetic and/or functional (ie, carnitine transporter activity) test results. In these 621 cases, cardiac symptoms (predominantly cardiomyopathy) were the most prevalent (23.8%). Neurological (7.1%), hepatic (8.4%), and metabolic (9.2%) symptoms occurred mainly in early childhood. Adult onset of symptoms occurred in 16 of 194 adult patients, of whom 6 (3.1%) patients suffered a severe event without any preceding symptom (five cardiac events and one coma). In conclusion, symptoms in PCD predominantly develop in early childhood. Most newborns and mothers of newborns detected through NBS remain asymptomatic. However, though rarely, severe complications do occur in both groups.
    MeSH term(s) Cardiomyopathies/complications ; Cardiomyopathies/diagnosis ; Cardiomyopathies/genetics ; Carnitine/deficiency ; Carnitine/metabolism ; Child, Preschool ; Humans ; Hyperammonemia/complications ; Hyperammonemia/diagnosis ; Hyperammonemia/genetics ; Infant, Newborn ; Muscular Diseases/complications ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Neonatal Screening/methods ; Solute Carrier Family 22 Member 5/genetics
    Chemical Substances Solute Carrier Family 22 Member 5 ; Carnitine (S7UI8SM58A)
    Language English
    Publishing date 2022-02-03
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12475
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  6. Article ; Online: Bile acid analysis in human disorders of bile acid biosynthesis.

    Vaz, Frédéric M / Ferdinandusse, Sacha

    Molecular aspects of medicine

    2017  Volume 56, Page(s) 10–24

    Abstract: Bile acids facilitate the absorption of lipids in the gut, but are also needed to maintain cholesterol homeostasis, induce bile flow, excrete toxic substances and regulate energy metabolism by acting as signaling molecules. Bile acid biosynthesis is a ... ...

    Abstract Bile acids facilitate the absorption of lipids in the gut, but are also needed to maintain cholesterol homeostasis, induce bile flow, excrete toxic substances and regulate energy metabolism by acting as signaling molecules. Bile acid biosynthesis is a complex process distributed across many cellular organelles and requires at least 17 enzymes in addition to different metabolite transport proteins to synthesize the two primary bile acids, cholic acid and chenodeoxycholic acid. Disorders of bile acid synthesis can present from the neonatal period to adulthood and have very diverse clinical symptoms ranging from cholestatic liver disease to neuropsychiatric symptoms and spastic paraplegias. This review describes the different bile acid synthesis pathways followed by a summary of the current knowledge on hereditary disorders of human bile acid biosynthesis with a special focus on diagnostic bile acid profiling using mass spectrometry.
    MeSH term(s) Adult ; Animals ; Chenodeoxycholic Acid/analysis ; Chenodeoxycholic Acid/biosynthesis ; Cholestasis/diagnosis ; Cholestasis/enzymology ; Cholestasis/genetics ; Cholestasis/pathology ; Cholesterol/analysis ; Cholesterol/metabolism ; Cholic Acid/analysis ; Cholic Acid/biosynthesis ; Enterohepatic Circulation ; Homeostasis/physiology ; Humans ; Infant ; Intestines/metabolism ; Intestines/microbiology ; Liver/cytology ; Liver/metabolism ; Mass Spectrometry/instrumentation ; Mass Spectrometry/methods ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/enzymology ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/pathology ; Zellweger Syndrome/diagnosis ; Zellweger Syndrome/enzymology ; Zellweger Syndrome/genetics ; Zellweger Syndrome/pathology
    Chemical Substances Chenodeoxycholic Acid (0GEI24LG0J) ; Cholesterol (97C5T2UQ7J) ; Cholic Acid (G1JO7801AE)
    Language English
    Publishing date 2017-03-22
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 197640-0
    ISSN 1872-9452 ; 0098-2997
    ISSN (online) 1872-9452
    ISSN 0098-2997
    DOI 10.1016/j.mam.2017.03.003
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  7. Article ; Online: Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

    Vaz, Frédéric M / Staps, Pippa / van Klinken, Jan Bert / van Lenthe, Henk / Vervaart, Martin / Wanders, Ronald J A / Pras-Raves, Mia L / van Weeghel, Michel / Salomons, Gajja S / Ferdinandusse, Sacha / Wevers, Ron A / Willemsen, Michèl A A P

    Biochimica et biophysica acta. Molecular and cell biology of lipids

    2024  Volume 1869, Issue 2, Page(s) 159447

    Abstract: Aim: Sjögren-Larsson syndrome (SLS) is a rare neurometabolic disorder that mainly affects brain, eye and skin and is caused by deficiency of fatty aldehyde dehydrogenase. Our recent finding of a profoundly disturbed brain tissue lipidome in SLS prompted ...

    Abstract Aim: Sjögren-Larsson syndrome (SLS) is a rare neurometabolic disorder that mainly affects brain, eye and skin and is caused by deficiency of fatty aldehyde dehydrogenase. Our recent finding of a profoundly disturbed brain tissue lipidome in SLS prompted us to search for similar biomarkers in plasma as no functional test in blood is available for SLS.
    Methods and results: We performed plasma lipidomics and used a newly developed bioinformatics tool to mine the untargeted part of the SLS plasma and brain lipidome to search for SLS biomarkers. Plasma lipidomics showed disturbed ether lipid metabolism in known lipid classes. Untargeted lipidomics of both plasma and brain (white and grey matter) uncovered two new endogenous lipid classes highly elevated in SLS. The first biomarker group were alkylphosphocholines/ethanolamines containing different lengths of alkyl-chains where some alkylphosphocholines were > 600-fold elevated in SLS plasma. The second group of biomarkers were a set of 5 features of unknown structure. Fragmentation studies suggested that they contain ubiquinol and phosphocholine and one feature was also found as a glucuronide conjugate in plasma. The plasma features were highly distinctive for SLS with levels >100-1000-fold the level in controls, if present at all. We speculate on the origin of the alkylphosphocholines/ethanolamines and the nature of the ubiquinol-containing metabolites.
    Conclusions: The metabolites identified in this study represent novel endogenous lipid classes thus far unknown in humans. They represent the first plasma metabolite SLS-biomarkers and may also yield more insight into SLS pathophysiology.
    MeSH term(s) Humans ; Sjogren-Larsson Syndrome/diagnosis ; Sjogren-Larsson Syndrome/metabolism ; Lipidomics ; Skin/metabolism ; Ethanolamines ; Lipids
    Chemical Substances Ethanolamines ; Lipids
    Language English
    Publishing date 2024-01-03
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 60-7
    ISSN 1879-2618 ; 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-2618 ; 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbalip.2023.159447
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    Uc I Zs.247: Show issues Location:
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  8. Article ; Online: Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.

    Schwantje, Marit / Mosegaard, Signe / Knottnerus, Suzan J G / van Klinken, Jan Bert / Wanders, Ronald J / van Lenthe, Henk / Hermans, Jill / IJlst, Lodewijk / Denis, Simone W / Jaspers, Yorrick R J / Fuchs, Sabine A / Houtkooper, Riekelt H / Ferdinandusse, Sacha / Vaz, Frédéric M

    FASEB journal : official publication of the Federation of American Societies for Experimental Biology

    2024  Volume 38, Issue 4, Page(s) e23478

    Abstract: Carnitine derivatives of disease-specific acyl-CoAs are the diagnostic hallmark for long-chain fatty acid β-oxidation disorders (lcFAOD), including carnitine shuttle deficiencies, very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD), long-chain 3- ... ...

    Abstract Carnitine derivatives of disease-specific acyl-CoAs are the diagnostic hallmark for long-chain fatty acid β-oxidation disorders (lcFAOD), including carnitine shuttle deficiencies, very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MPTD). The exact consequence of accumulating lcFAO-intermediates and their influence on cellular lipid homeostasis is, however, still unknown. To investigate the fate and cellular effects of the accumulating lcFAO-intermediates and to explore the presence of disease-specific markers, we used tracer-based lipidomics with deuterium-labeled oleic acid (D9-C18:1) in lcFAOD patient-derived fibroblasts. In line with previous studies, we observed a trend towards neutral lipid accumulation in lcFAOD. In addition, we detected a direct connection between the chain length and patterns of (un)saturation of accumulating acylcarnitines and the various enzyme deficiencies. Our results also identified two disease-specific candidate biomarkers. Lysophosphatidylcholine(14:1) (LPC(14:1)) was specifically increased in severe VLCADD compared to mild VLCADD and control samples. This was confirmed in plasma samples showing an inverse correlation with enzyme activity, which was better than the classic diagnostic marker C14:1-carnitine. The second candidate biomarker was an unknown lipid class, which we identified as S-(3-hydroxyacyl)cysteamines. We hypothesized that these were degradation products of the CoA moiety of accumulating 3-hydroxyacyl-CoAs. S-(3-hydroxyacyl)cysteamines were significantly increased in LCHADD compared to controls and other lcFAOD, including MTPD. Our findings suggest extensive alternative lipid metabolism in lcFAOD and confirm that lcFAOD accumulate neutral lipid species. In addition, we present two disease-specific candidate biomarkers for VLCADD and LCHADD, that may have significant relevance for disease diagnosis, prognosis, and monitoring.
    MeSH term(s) Humans ; Lipidomics ; Mitochondrial Diseases/diagnosis ; Carnitine ; Cysteamine ; Lipids ; Muscular Diseases ; Mitochondrial Myopathies ; Rhabdomyolysis ; Lipid Metabolism, Inborn Errors ; Mitochondrial Trifunctional Protein/deficiency ; Cardiomyopathies ; Congenital Bone Marrow Failure Syndromes ; Nervous System Diseases
    Chemical Substances Carnitine (S7UI8SM58A) ; Cysteamine (5UX2SD1KE2) ; Lipids ; Mitochondrial Trifunctional Protein (EC 2.3.1.16)
    Language English
    Publishing date 2024-02-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639186-2
    ISSN 1530-6860 ; 0892-6638
    ISSN (online) 1530-6860
    ISSN 0892-6638
    DOI 10.1096/fj.202302163R
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  9. Article: Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.

    Stolwijk, Nina N / Langeveld, Mirjam / Jacobs, Bart A W / Vogt, Liffert / Haverkamp, Jorien A / Ferdinandusse, Sacha / Hollak, Carla E M

    JIMD reports

    2022  Volume 63, Issue 5, Page(s) 407–413

    Abstract: Recent studies have reported the potential for the therapeutic use of ketones in the form of ketone salts (KSs) in pediatric patients with fatty acid oxidation disorders (FAODs). We report a case of ketone salt administration in an adult patient with ... ...

    Abstract Recent studies have reported the potential for the therapeutic use of ketones in the form of ketone salts (KSs) in pediatric patients with fatty acid oxidation disorders (FAODs). We report a case of ketone salt administration in an adult patient with mitochondrial trifunctional protein deficiency (MTPD), an ultra-rare inborn error of the fatty acid metabolism. This patient was treated with oral KSs during an episode of sepsis of unknown origin. Before KS supplementation was initiated, he had developed severe rhabdomyolysis as well as a respiratory insufficiency that did not respond to emergency treatment aimed at stabilizing the metabolic decompensation by promoting anabolism. Therefore, KS supplementation was attempted twice to support his energy production and help regain metabolic stability. In both instances, KS supplementation led to a considerable metabolic alkalosis, which prompted its discontinuation. This adverse event could have been caused by an increase in extracellular sodium load due to KS administration. Therefore, the clinical applicability of KSs in adults may be limited. Alternative chemical forms of beta-hydroxybutyrate (βHB), such as ketone esters, might provide a more acceptable safety profile for future research into the therapeutic benefits of ketone body supplementation in adult patients with FAODs.
    Language English
    Publishing date 2022-06-25
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12309
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans.

    Wanders, Ronald J A / Waterham, Hans R / Ferdinandusse, Sacha

    Sub-cellular biochemistry

    2018  Volume 89, Page(s) 345–365

    Abstract: Peroxisomes catalyze a number of essential metabolic functions and impairments in any of these are usually associated with major clinical signs and symptoms. In contrast to mitochondria which are autonomous organelles that can catalyze the degradation of ...

    Abstract Peroxisomes catalyze a number of essential metabolic functions and impairments in any of these are usually associated with major clinical signs and symptoms. In contrast to mitochondria which are autonomous organelles that can catalyze the degradation of fatty acids, certain amino acids and other compounds all by themselves, peroxisomes are non-autonomous organelles which are highly dependent on the interaction with other organelles and compartments to fulfill their role in metabolism. This includes mitochondria, the endoplasmic reticulum, lysosomes, and the cytosol. In this paper we will discuss the central role of peroxisomes in different metabolic interaction networks in humans, including fatty acid oxidation, ether phospholipid biosynthesis, bile acid synthesis, fatty acid alpha-oxidation and glyoxylate metabolism.
    MeSH term(s) Bile Acids and Salts/biosynthesis ; Fatty Acids/metabolism ; Glyoxylates/metabolism ; Humans ; Metabolic Networks and Pathways ; Oxidation-Reduction ; Peroxisomes/metabolism
    Chemical Substances Bile Acids and Salts ; Fatty Acids ; Glyoxylates ; glyoxylic acid (JQ39C92HH6)
    Language English
    Publishing date 2018-10-28
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 0306-0225 ; 0096-8757
    ISSN 0306-0225 ; 0096-8757
    DOI 10.1007/978-981-13-2233-4_15
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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