Impaired lipolysis in propionic acidemia: A new metabolic myopathy? by Jesper H. Storgaard, Karen L. Madsen, Nicoline Løkken, John Vissing, Gerrit vanHall, Allan M. Lund, Mette C. Ørngreen

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The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients by Svetlana Lajic, Leif Karlsson, Rolf H. Zetterström, Henrik Falhammar, Anna Nordenström

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Phosphoproteomics-directed manipulation reveals SEC22B as a hepatocellular signaling node governing metabolic actions of glucagon by Yuqin Wu, Ashish Foollee, Andrea Y. Chan, Susanne Hille, Jana Hauke, Matthew P. Challis, Jared L. Johnson, Tomer M. Yaron, Victoria Mynard, Okka H. Aung, Maria Almira S. Cleofe, Cheng Huang, Terry C. C. Lim Kam Sian, Mohammad Rahbari, Suchira Gallage, Mathias Heikenwalder, Lewis C. Cantley, Ralf B. Schittenhelm, Luke E. Formosa, Greg C. Smith, Jürgen G. Okun, Oliver J. Müller, Patricia M. Rusu, Adam J. Rose

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Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey by Valentina De Giorgis, Ludovica Pasca, Gemma Aznar‐Lain, Irena Bibic, Vedrana Bibic, Francesca Darra, Alice Dianin, Anastasia Dressler, Henna Jonsson, Jonna Komulainen‐Ebrahim, Magnhild Kverneland, Ellen Molteberg, Francesca Ragona, Anne deSaint‐Martin, Costanza Varesio, J. Helen Cross, ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG)

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Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group by Valentina De Giorgis, Valentina De Giorgis, Anna Tagliabue, Francesca Bisulli, Francesca Bisulli, Ilaria Brambilla, Alessandra Camerini, Raffaella Cusmai, Francesca Darra, Alice Dianin, Elia Domenica, Monica Anna Maria Lodi, Sara Matricardi, Tullio Messana, Francesca Operto, Francesca Ragona, Emilio Russo, Costanza Varesio, Costanza Varesio, Lilia Volpi, Martina Paola Zanaboni, Ludovica Pasca, Ludovica Pasca, Pierangelo Veggiotti, Pierangelo Veggiotti

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Clinical, diagnostic and therapeutic characteristics of mucopolysaccharidosis by John Sebastián Carvajal Gavilanes, José Andrés Plazarte Mullo, Marcia Alexandra Silva Mata

“…Conclusions: Mucopolysaccharidoses are a group of inherited metabolic diseases. In mucopolysaccharidosis an adequate diagnosis is essential to improve the life expectancy of patients. …”
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Use of valproate and carbamazepine in the therapy of epilepsy (guidelines for the practitioner) by P. N. Vlasov

“…VA should not be used (if the clinical situation allows) in women of childbearing age, in some infantile epileptic encephalopathy, inherited metabolic diseases, and chromosomal abnormalities. …”
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Evaluation of patients with phenylketonuria before and after screening in Qazvin Province, Iran by Ali Homaei

“…CONCLUSION: Early diagnosis and treatment of children with inherited metabolic diseases can prevent brain damage and retardation in them and reduce the financial and psychological burden of treating these children by maintaining their intelligence quotient (IQ).…”
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Inhibition of in vitro CO2 production and lipid synthesis by 2-hydroxybutyric acid in rat brain by A.R. Silva, C. Ruschel, C. Helegda, A.T.S. Wyse, C.M.D. Wannmacher, M. Wajner, C.S. Dutra-Filho

“…2-Hydroxybutyric acid appears at high concentrations in situations related to deficient energy metabolism (e.g., birth asphyxia) and also in inherited metabolic diseases affecting the central nervous system during neonatal development, such as "cerebral" lactic acidosis, glutaric aciduria type II, dihydrolipoyl dehydrogenase (E3) deficiency, and propionic acidemia. …”
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Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse by Giulia Aquilano, Agnes Linnér, Agnes Linnér, Sofia Ygberg, Sofia Ygberg, Sofia Ygberg, Tommy Stödberg, Tommy Stödberg, Ewa Henckel, Ewa Henckel

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Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1) from a type 1 early infantile epileptic encephalopathy (EIEE1) patient with a hemizygous R330L mutation in the AR... by Xiaohui Gong, Zhangqian Zheng, Tong Yang, Huiying Zheng, Xirong Xiao, Nan Jia

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Clinical proton MR spectroscopy in central nervous system disorders. by Oz, G, Alger, JR, Barker, P, Bartha, R, Bizzi, A, Boesch, C, Bolan, P, Brindle, K, Cudalbu, C, Dinçer, A, Dydak, U, Emir, U, Frahm, J, González, R, Gruber, S, Gruetter, R, Gupta, R, Heerschap, A, Henning, A, Hetherington, H, Howe, F, Hüppi, P, Hurd, R, Kantarci, K, Klomp, D

“…The clinical usefulness of (1)H MR spectroscopy has been established for brain neoplasms, neonatal and pediatric disorders (hypoxia-ischemia, inherited metabolic diseases, and traumatic brain injury), demyelinating disorders, and infectious brain lesions. …”

Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention by Benjamin Cross, Karolina M. Stepien, Chaitanya Gadepalli, Ahmed Kharabish, Ahmed Kharabish, Peter Woolfson, Govind Tol, Petra Jenkins

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Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria by Rida Jaber, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar

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Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease by Max Arslan, Max Novak, Dietmar Rosenthal, Christian J. Hartmann, Philipp Albrecht, Sara Samadzadeh, Harald Hefter

“…A family is described as having two recessively inherited metabolic diseases and three differently affected children. …”
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Postpyloric nutrition to prevent emergencies – a step away from repeat inpatient care in children with methylmalonic acidaemia and propionic acidaemia – a case report of four cases... by Stefan Schumann, Frank Risto Rommel, Serdar Cantez, Evdokia Alexanidou, Clemens Kamrath, Jan de Laffolie

“…Methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are very rare autosomal recessive inherited metabolic diseases from the group of organoacidopathies. …”
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Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians by Sandra Sirrs, Elisa Fabbro, Annalisa Sechi, for the SSIEM Adult Metabolic Medicine Training Competencies Working Group

“…Abstract The rapid expansion of the number of adult patients with inherited metabolic diseases (IMDs) has created demand for physicians with expertise in the field of adult metabolic medicine (AMM). …”
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Oxidative Stress in Mucopolysaccharidoses: Pharmacological Implications by Karolina Pierzynowska, Lidia Gaffke, Zuzanna Cyske, Grzegorz Węgrzyn, Brigitta Buttari, Elisabetta Profumo, Luciano Saso

“…Although mucopolysaccharidoses (MPS) are caused by mutations in genes coding for enzymes responsible for degradation of glycosaminoglycans, storage of these compounds is crucial but is not the only pathomechanism of these severe, inherited metabolic diseases. Among various factors and processes influencing the course of MPS, oxidative stress appears to be a major one. …”
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Lysosomal storage disorders: Molecular basis and laboratory testing by Filocamo Mirella, Morrone Amelia

“…<p>Abstract</p> <p>Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific lysosomal enzymes and, in cases, of non-enzymatic lysosomal proteins or non-lysosomal proteins involved in lysosomal biogenesis. …”
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Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice. by te Vruchte, D, Jeans, A, Platt, F, Sillence, D

“…Glycosphingolipid storage diseases are a group of inherited metabolic diseases in which glycosphingolipids accumulate due to their impaired lysosomal breakdown. …”