Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disord... by Marlene Ek, Marlene Ek, Daniel Nilsson, Daniel Nilsson, Daniel Nilsson, Martin Engvall, Martin Engvall, Helena Malmgren, Helena Malmgren, Håkan Thonberg, Håkan Thonberg, Maria Pettersson, Maria Pettersson, Britt-Marie Anderlid, Britt-Marie Anderlid, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Karin Naess, Inger Nennesmo, Martin Paucar, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Göran Solders, Thomas Sejersen, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Malin Kvarnung, Malin Kvarnung

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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions by Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, Nigel G. Laing

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Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures by Allan Bayat, Allan Bayat, Manuela Pendziwiat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy Mitchell, Eva Morava, Rikke S. Møller, Rikke S. Møller, Guido Rubboli, Guido Rubboli

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Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area by Wei Zhou, Huizhong Li, Ting Huang, Yan Zhang, Chuanxia Wang, Maosheng Gu

“…The aim of this study was to the clinical, biochemical, and molecular characteristics of PCD patients via newborn screening with tandem mass spectrometry (MS/MS).Methods: MS/MS was performed to screen newborns for inherited metabolic diseases. SLC22A5 gene mutations were detected in the individual and/or their family member by DNA mass array and next-generation sequencing (NGS).Results: Among the 236,368 newborns tested, ten exhibited PCD, and six others were diagnosed with low carnitine levels caused by their mothers, who had asymptomatic PCD. …”
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Neuroinflammatory paradigms in lysosomal storage diseases by Megan Elizabeth Bosch, Tammy eKielian

“…Lysosomal storage diseases (LSDs) include approximately 70 distinct disorders that collectively account for 14% of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, which impairs macromolecule degradation following endosome-lysosome and phagosome-lysosome fusion and autophagy, ultimately disrupting cellular homeostasis. …”
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Acute hepatic porphyria - classification, diagnosis and treatment by Aleksandra Czekaj, Kinga Ruszel, Robert Dubel, Julia Dubel, Natalia Namroży

“… Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. …”
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Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions by Aurelio Reyes, Laura Melchionda, Alberto Burlina, Alan J Robinson, Daniele Ghezzi, Massimo Zeviani

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Spectrum of Paediatric Lysosomal Storage Disorders in Oman by Almundher A Al-Maawali, Surendra N Joshi, Roshan L Koul, Ali A Al-Maawali, Hilal S Al-Sedari, Bader M Al-Amri, Amna M Al-Futaisi

“…Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited metabolic diseases. Few studies on the birth prevalence and prevalence of LSDs have been reported from the Arabian Peninsula. …”
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Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency by Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst

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Personalized whole‐body models integrate metabolism, physiology, and the gut microbiome by Ines Thiele, Swagatika Sahoo, Almut Heinken, Johannes Hertel, Laurent Heirendt, Maike K Aurich, Ronan MT Fleming

“…We also illustrate that the WBM models can predict known biomarkers of inherited metabolic diseases in different biofluids. Predictions of basal metabolic rates, by WBM models personalized with physiological data, outperformed current phenomenological models. …”
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Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) by Batuhan Aksoy, Gülipek Tigrel

“…Most, if not all, hereditary syndromic retinopathies can be analyzed in two main groups: inherited metabolic diseases and ciliopathies. The main cause of ocular pathologies in JS is genetic mutations in ciliary proteins that prevent normal function of retinal photoreceptor cells. …”
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GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice by Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova

“…Differential diagnosis of this disease should be performed with other diseases from the group of inherited metabolic diseases associated with early regression of psychomotor skills, progressive vision loss, “cherry red spot” symptom on the fundus of the eye and convulsive disorder…”
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Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall? by Karolina Wiśniewska, Jakub Wolski, Magdalena Żabińska, Aneta Szulc, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn

“…Specific difficulties in diagnostics and the classification of some inherited metabolic diseases are also highlighted and discussed.…”
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Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy by Ivano Di Meo, Alberto Auricchio, Costanza Lamperti, Alberto Burlina, Carlo Viscomi, Massimo Zeviani

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Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells by Karolina Pierzynowska, Magdalena Żabińska, Lidia Gaffke, Zuzanna Cyske, Grzegorz Węgrzyn

“…Mucopolysaccharidoses (MPS) are inherited metabolic diseases caused by storage of glycosaminoglycans (GAGs), however, various modulations of the course of these diseases were identified recently due to impairment of different cellular processes. …”
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The multifaceted challenges faced by women in the field of inherited metabolic disorders by Livia Lenzini, Sara Bianconi, Giorgia Gugelmo, Vincenza Gragnaniello, Simone Messerotti Benvenuti, Gian Paolo Fadini, Nicola Vitturi

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A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy by Seung Hoon Lee, Jung Min Ko, Mi‐Kyoung Song, Junghan Song, Kyung Sun Park

“…Newborn screening for inherited metabolic diseases showed a normal result; therefore, DCMP management was initiated. …”
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Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Mucopolysaccharidoses by Valeria De Pasquale, Patrizia Sarogni, Valeria Pistorio, Giuliana Cerulo, Simona Paladino, Luigi Michele Pavone

“…Mucopolysaccharidoses (MPSs) are inherited metabolic diseases caused by the deficiency of lysosomal enzymes needed to catabolize glycosaminoglycans (GAGs). …”
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Newborn Screening Program for Cystic Fibrosis in Cuba: Three Years’ Experience by Elisa M. Castells, Aramis Sánchez, Amarilys Frómeta, Yanin Moksde, Eladio Silva, Nelson Ozunas, Tania Licourt, Ana L. Arteaga, Teresa Collazo, Fidel Rodríguez, Odalys Martín, Maryeris Espinosa, Lesley del Río, Pedro L. Pérez, Greilys Morejón, Claudia Almira, Zoe Núñez, Antonio Melchor, Ernesto C. González

“…Although CF NBS program in Cuba is just beginning, it can be predicted that CF will be one of the most frequent inherited-metabolic diseases in the Cuban population.…”
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Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency by Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst

“…Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. …”
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