Review
Biochemistry & Molecular Biology
Maria del Pilar Chantada-Vazquez, Susana B. Bravo, Sofia Barbosa-Gouveia, Jose V. Alvarez, Maria L. Couce
Summary: Inherited metabolic disorders (IMDs) are rare medical conditions caused by genetic defects that affect the body's metabolism. Early diagnosis and understanding of the disease are crucial, and proteomics and tandem mass spectrometry (MS/MS) have emerged as valuable tools for studying IMDs. Proteomics can aid in the identification of biomarkers, early diagnosis, and better understanding of the underlying pathology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pediatrics
Umamaheswari Balakrishnan, Ashok Chandrasekaran, Prakash Amboiram, Binu Ninan, Sebatini Ignatious
Summary: This study evaluated the outcomes of infants diagnosed with IEM during the neonatal period in South India. Despite the low detection rate of NBS, early diagnosis of IEM remains crucial as it can help in early management and improve prognosis. Infants presenting with encephalopathy usually have a poorer prognosis.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Gastroenterology & Hepatology
Grazia Pennisi, Rosaria Maria Pipitone, Daniela Cabibi, Marco Enea, Manuel Romero-Gomez, Mauro Vigano, Elisabetta Bugianesi, Vincent Wai-Sun Wong, Anna Ludovica Fracanzani, Giada Sebastiani, Annalisa Berzigotti, Francesca Di Salvo, Antonino Giulio Giannone, Claudia La Mantia, Giulia Lupo, Rossana Porcasi, Federica Vernuccio, Rossella Zito, Vito Di Marco, Calogero Camma, Antonio Craxi, Victor de Ledinghen, Stefania Grimaudo, Salvatore Petta
Summary: The presence of a cholestatic pattern in patients with NAFLD predicts a higher risk of major liver-related outcomes independently from other features of liver disease.
LIVER INTERNATIONAL
(2022)
Review
Clinical Neurology
Khalid Hundallah, Brahim Tabarki
Summary: Inherited metabolic diseases often result in complex clinical symptoms, with seizures being a prominent feature. Early diagnosis and treatment can significantly improve outcomes.
Article
Genetics & Heredity
Hong Zhang, Yanyun Wang, Yali Qiu, Chao Zhang
Summary: Tandem mass spectrometry (MS/MS) has been used to assess the incidence and genetic characteristics of inherited metabolic disorders (IMDs) in Suqian city, China. The overall incidence of IMDs was found to be high, with phenylalanine hydroxylase deficiency being the most common disorder. Hot spot mutations in genes such as PAH, ACADS, and MMACHC were identified as the leading causes of IMDs in this region. This study contributes to the understanding and management of these disorders in Suqian city.
FRONTIERS IN GENETICS
(2022)
Article
Endocrinology & Metabolism
Anke Schumann, Ulla T. Schultheiss, Carlos R. Ferreira, Nenad Blau
Summary: Kidney disease is a major global health burden, with various causes including common diseases like diabetes and hypertension, as well as rare inherited metabolic diseases. The kidney is targeted in about 10% of known metabolic diseases, leading to diverse forms of kidney damage. We revised and updated the list of metabolic diseases associated with kidney involvement, identifying 190 relevant diseases. This article contributes to the educational series on metabolic differential diagnoses.
MOLECULAR GENETICS AND METABOLISM
(2023)
Letter
Genetics & Heredity
Thirsa Conijn, Lotte Haverman, Frits A. Wijburg, Carlijn De Roos
Summary: The study suggests that time-limited EMDR therapy may be an effective treatment for traumatized parents of children with MPS III, leading to a significant decrease in post traumatic stress symptoms and psychological distress. Further research is needed to confirm the efficacy of EMDR for this specific population.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Review
Gastroenterology & Hepatology
Yi-Gui Zou, Huan Wang, Wen-Wen Li, Dong-Ling Dai
Summary: The clinical scenario of pediatric liver disease has become more complicated with changes in the disease spectrum, including an increase in inherited/metabolic liver diseases and a decrease in infectious diseases. Similar clinical manifestations caused by inherited/metabolic diseases may be overlooked due to nonspecific characteristics. Late diagnosis and treatment can occur due to delayed visits to doctors and limited diagnostic approaches, such as liver biopsy, are challenging in pediatric patients. Precision treatment for liver dysfunction caused by inherited/metabolic diseases is difficult, making symptomatic treatment a compelling option for inherited disorders.
WORLD JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Endocrinology & Metabolism
Annieke Venema, Fabian Peeks, Alessandro Rossi, Emmalie A. Jager, Terry G. J. Derks
Summary: Value-based healthcare aims to achieve better outcomes for patients, improve quality of care, and reduce costs. Current practices primarily focus on common diseases, but there are challenges when applying these strategies to rare diseases.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Pediatrics
Friederike Wilbert, Sarah C. Gruenert, Andrea Heinzmann, Sebastian F. N. Bode
Summary: Childhood hypoglycemia with hepatomegaly may indicate inborn errors of metabolism, while cystic fibrosis typically presents with failure to thrive and pulmonary symptoms. In rare cases, cystic fibrosis can also lead to hepatic involvement and hypoglycemia, as seen in the 28-month-old boy described in the case presentation. Treatment with starch to control hypoglycemia was initiated, but further complications such as loose stools and reduced pancreatic elastase were observed, leading to the diagnosis of cystic fibrosis through genetic testing and sweat tests.
Review
Endocrinology & Metabolism
David Bakhos, Helene Blasco, John J. Galvin III, Carlos R. Ferreira, Nenad Blau
Summary: Damages to the ear can vary depending on the type of inherited metabolic diseases (IMD). This article provides a comprehensive list of 219 IMDs associated with different types of ear involvement, categorized based on the site of auditory system lesion. It serves as an educational summary for metabolic differential diagnoses.
MOLECULAR GENETICS AND METABOLISM
(2022)
Review
Endocrinology & Metabolism
Alejandro Garanto, Carlos R. Ferreira, Camiel J. F. Boon, Clara D. M. van Karnebeek, Nenad Blau
Summary: Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs), with retinal degeneration being the most common phenotype. These ocular manifestations provide valuable clues for diagnosis.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Endocrinology & Metabolism
M. Petrisano, S. Sestito, L. Castaldo, S. Ferraro, M. Miraglia Del Giudice, S. Leonardi, M. D. Ceravolo, C. Cuppari, A. Salpietro, R. Gallizzi, L. Pensabene, D. Concolino
Summary: Inborn errors of metabolism (IEM) can manifest as emergencies during acute metabolic decompensation, necessitating specific treatments to prevent morbidity and mortality. Metabolic imbalance is often triggered by diet or concurrent illnesses, with nonspecific symptoms that increase the risk of missed diagnosis. The principle of acute management is to halt further decompensation and ensure adequate metabolic requirements are met.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2022)
Review
Clinical Neurology
Mohammed Almannai, Rabah A. Al Mahmoud, Mohammed Mekki, Ayman W. El-Hattab
Summary: Metabolic diseases should be considered in children with seizures, as prompt diagnosis and appropriate treatment are crucial for preventing or minimizing complications. Seizures caused by underlying metabolic diseases, known as metabolic seizures, should be particularly considered in certain contexts such as unexplained neonatal seizures or family history of epilepsy.
FRONTIERS IN NEUROLOGY
(2021)
Article
Immunology
Marta Martin-Fernandez, Sofija Buta, Tom Le Voyer, Zhi Li, Lasse Toftdal Dynesen, Francoise Vuillier, Lina Franklin, Fatima Ailal, Alice Muglia Amancio, Louise Malle, Conor Gruber, Ibtihal Benhsaien, Jennie Altman, Justin Taft, Caroline Deswarte, Manon Roynard, Alejandro Nieto-Patlan, Kunihiko Moriya, Jeremie Rosain, Nathalie Boddaert, Aziz Bousfiha, Yanick J. Crow, Dragana Jankovic, Alan Sher, Jean-Laurent Casanova, Sandra Pellegrini, Jacinta Bustamante, Dusan Bogunovic
Summary: This study identifies a new USP18 mutation that leads to autoinflammation and mycobacterial disease due to insufficient negative regulation of IFN-I signaling, providing important insights into the underlying mechanism of specific interferonopathy.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, Corinne De Laet, Philippe J. Goyens, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Paul Gissen, Jorgen Bierau, Peter M. van Hasselt, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Alicia de la Parra, Carolina Arias, Maria I. Garcia, Veronica Cornejo, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Martijn C. G. J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Summary: This study investigated and compared the neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients, finding that TT1 patients exhibited lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls in these aspects.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Endocrinology & Metabolism
Stefanie Lefever, Nele Peersman, Wouter Meersseman, David Cassiman, Pieter Vermeersch
Summary: Porphyrias are rare metabolic disorders of the haem synthesis. A study developed and validated algorithms for the laboratory diagnosis of acute and cutaneous porphyrias based on presenting symptoms. The algorithms showed high sensitivity and specificity in correctly interpreting the laboratory findings of porphyria-related tests.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Review
Cell Biology
Francesco Emma, Giovanni Montini, Marco Pennesi, Licia Peruzzi, Enrico Verrina, Bianca Maria Goffredo, Fabrizio Canalini, David Cassiman, Silvia Rossi, Elena Levtchenko
Summary: Early diagnosis and effective therapy are crucial for the prognosis and quality of life of patients with nephropathic cystinosis. Accurate monitoring of intracellular cystine concentration is essential for successful treatment. Cystine depletion is the only available treatment and should be started immediately to slow down organ damage. New biomarkers play a significant role in disease management, from diagnosis to treatment.
Article
Endocrinology & Metabolism
David Cassiman, Raili Kauppinen, Susana Monroy, Ming-Jen Lee, Herbert L. Bonkovsky, Manish Thapar, Encarna Guillen-Navarro, Anna-Elisabeth Minder, Cecilia Hale, Marianne T. Sweetser, Aneta Ivanova
Summary: Data from EXPLORE Part B showed that patients with acute hepatic porphyria (AHP) experienced high disease burden and impaired quality of life. Patients with more frequent attacks or on prophylaxis treatment and patients with fewer attacks and no prophylaxis treatment both reported chronic symptoms between attacks and diminished QOL compared to population norms.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Genetics & Heredity
Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani
Summary: Acute hepatic porphyria (AHP) is a rare genetic disease with worsening severity over time. The use of givosiran has been found to alleviate the disease burden of AHP patients, reducing the number and severity of attacks and improving the quality of life.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Endocrinology & Metabolism
Isabelle Adant, Matthew Bird, Bram Decru, Petra Windmolders, Marie Wallays, Peter de Witte, Daisy Rymen, Peter Witters, Pieter Vermeersch, David Cassiman, Bart Ghesquiere
Summary: This study aims to characterize the cellular metabolic consequences of OXPHOS dysfunction in primary mitochondrial diseases (PMD) and design new diagnostic and therapeutic strategies based on the metabolic signature.
MOLECULAR METABOLISM
(2022)
Article
Gastroenterology & Hepatology
Michael L. Schilsky, Anna Czlonkowska, Massimo Zuin, David Cassiman, Carlos Twardowschy, Aurelia Poujois, Francisco De Assis A. Gondim, Gerald Denk, Rubens G. Cury, Peter Ott, Joanna Moore, Aftab Ala, Renata D'Inca, Eduardo Couchonnal-Bedoya, Koenraad D'Hollander, Nicolas Dubois, C. Omar F. Kamlin, Karl Heinz Weiss
Summary: The study compares the effectiveness of penicillamine and TETA4 in maintenance therapy for Wilson disease. The results show that TETA4 is non-inferior to penicillamine and is well tolerated in adults with Wilson disease.
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2022)
Article
Surgery
Benedict T. K. Vanlerberghe, Hannah van Malenstein, Mauricio Sainz-Bariga, Ina Jochmans, David Cassiman, Diethard Monbaliu, Schalk van der Merwe, Jacques Pirenne, Frederik Nevens, Jef Verbeek
Summary: Recently, the concept of metabolic dysfunction-associated fatty liver disease (MAFLD) has been proposed to replace non-alcoholic fatty liver disease (NAFLD). This study assessed the prevalence of MAFLD in ALD patients undergoing liver transplantation (LTx) and its impact on post-transplant outcomes.
CLINICAL TRANSPLANTATION
(2023)
Article
Microbiology
Marijn Thijssen, Frank Tacke, Lore Van Espen, David Cassiman, Mahmoud Naser Aldine, Frederik Nevens, Marc Van Ranst, Jelle Matthijnssens, Mahmoud Reza Pourkarim
Summary: This study aimed to characterize the longitudinal plasma virome dynamics in chronic hepatitis B virus (HBV) infected patients. The virome was primarily composed of members of the Anello-, Flavi-, and Hepadnaviridae (HBV) families. The study found no correlation between virome structure and dynamics with the different stages of chronic HBV infection or antiviral therapy. The analysis of viruses observed in multiple timepoints revealed the presence of a dynamic community.
FRONTIERS IN MICROBIOLOGY
(2023)
Article
Cell Biology
Silvia Radenkovic, Anna N. Ligezka, Sneha S. Mokashi, Karen Driesen, Lynn Dukes-Rimsky, Graeme Preston, Luckio F. Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J. Beamer, Tamas Kozicz, Heather Flanagan-Steet, Bart Ghesquiere, Eva Morava
Summary: Abnormal polyol metabolism, primarily associated with diabetes, is also involved in phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG). A potential therapy for PMM2-CDG, epalrestat, inhibits aldose reductase (AR). This study reveals that PMM2 deficiency affects intracellular glucose flux, leading to increased polyol production, and epalrestat treatment improves the clinical and biochemical characteristics of PMM2-CDG individuals.
CELL REPORTS MEDICINE
(2023)
Article
Endocrinology & Metabolism
Lise E. F. Janssen, David Cassiman, Martijn C. G. J. Brouwers
Summary: Although patients with hereditary fructose intolerance generally have a good prognosis on a fructose-restricted diet, this study found that they scored lower on vitality and general mental health, and reported a greater social impact of the disease.
MOLECULAR GENETICS AND METABOLISM
(2023)
Meeting Abstract
Gastroenterology & Hepatology
Emma Vanderschueren, Angelo Armandi, Wilhelmus Kwanten, Luisa Vonghia, Merle Marie Werner, Talal Merizian, Georg Semmler, Thomas Reiberger, Thomas Vanwolleghem, David Cassiman, Sven Francque, Joern Schattenberg, Wim Laleman
JOURNAL OF HEPATOLOGY
(2023)
Meeting Abstract
Gastroenterology & Hepatology
Rita Furtado Feio de Azevedo, Markus Boesch, Silvia Radenkovic, Marie Wallays, Lukas Van Melkebeke, Bram Boeckx, Gino Philips, Lena Smets, Wim Laleman, Philippe Meersseman, Alexander Wilmer, David Cassiman, Hannah Van Malenstein, Joan Claria, Frederik Nevens, Jef Verbeek, Richard Moreau, Vicente Arroyo, Dieter Lambrechts, Bart Ghesquiere, Hannelie Korf, Schalk van der Merwe
JOURNAL OF HEPATOLOGY
(2023)
Meeting Abstract
Gastroenterology & Hepatology
Michael L. Schilsky, Anna Czlonkowska, Massimo Zuin, David Cassiman, Aurelia Poujois, Aftab Ala, Koenraad D'Hollander, Karl Heinz Weiss, Peter Ott
Meeting Abstract
Gastroenterology & Hepatology
Michael L. Schilsky, Anna Czlonkowska, Massimo Zuin, David Cassiman, Aurelia Poujois, Aftab Ala, Koenraad D'Hollander, Karl Heinz Weiss, Omar Kamlin, Peter Ott
