Article
Pediatrics
Gouri Rao Passi, Akash Wakchaure, Shree Prakash Jaiswal
Summary: This study conducted a retrospective analysis of children with inborn errors of metabolism in a pediatric department of a teaching hospital in central India, finding lysosomal storage disorders to be the most common type of disease and most patients requiring a variety of different tests.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Genetics & Heredity
Abigail Kacpura, Marta Frigeni, Kathryn Gunther, Laura Farach
Summary: This case report describes a patient with early-onset cobalamin C deficiency who showed improvement in symptoms and biomarker levels after early initiation of high-dose hydroxocobalamin treatment. The patient did not exhibit common findings of the deficiency at 19 months of age.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Review
Genetics & Heredity
Tim Van Damme, Marlies Colman, Delfien Syx, Fransiska Malfait
Summary: The Ehlers-Danlos syndromes are a group of heritable connective tissue disorders with clinical presentations that vary widely. Different genetic defects are associated with the different EDS types. Features of EDS include joint hypermobility, skin hyperextensibility, fragility, atrophic scarring, and easy bruising, but other signs and symptoms may also be present. Differential diagnosis from other inborn errors of metabolism is necessary for diagnosing EDS.
Review
Pediatrics
Konrad Kaminiow, Sylwia Kozak, Justyna Paprocka
Summary: Seizures in newborns, most commonly occurring during the neonatal period, can be caused by severe disorders of the central nervous system or immaturity of the infant's brain, with factors such as hypoxic-ischemic encephalopathy and CNS infections. Treatment and prognosis vary depending on the underlying cause of the seizures.
Article
Biology
Peter M. Masschelin, Pradip Saha, Scott A. Ochsner, Aaron R. Cox, Kang Ho Kim, Jessica B. Felix, Robert Sharp, Xin Li, Lin Tan, Jun Hyoung Park, Liping Wang, Vasanta Putluri, Philip L. Lorenzi, Alli M. Nuotio-Antar, Zheng Sun, Benny Abraham Kaipparettu, Nagireddy Putluri, David D. Moore, Scott A. Summers, Neil J. McKenna, Sean M. Hartig
Summary: Flavin adenine dinucleotide (FAD) interacts with flavoproteins to mediate oxidation-reduction reactions for cellular energy demands. Depleting FAD pools in mice causes phenotypes associated with organic acidemias and other inborn errors of metabolism (IEMs), such as reduced body weight, hypoglycemia, and fatty liver disease. The study reveals that B2D inhibits fasting activation of PPAR alpha target genes and downregulates gluconeogenesis genes. Knockdown of PPAR alpha in the liver recapitulates B2D effects, while treatment with the PPAR alpha agonist fenofibrate rescues fasting glucose availability and overcomes B2D phenotypes.
Article
Biochemistry & Molecular Biology
Aida Corrillero Bravo, Maria Nieves Ligero Aguilera, Nahuel R. Marziali, Lennart Moritz, Victoria Wingert, Katharina Klotz, Anke Schumann, Sarah C. Gruenert, Ute Spiekerkoetter, Urs Berger, Ann-Kathrin Lederer, Roman Huber, Luciana Hannibal
Summary: S-adenosylmethionine (SAM) is essential for methyl transfer reactions. SAM is produced de novo via the methionine cycle. The demethylation of SAM produces S-adenosylhomocysteine (SAH), an inhibitor of methyltransferases. Measurement of SAM and SAH in plasma is valuable for diagnosing inborn errors of metabolism and assessing methyl group homeostasis.
Article
Multidisciplinary Sciences
Yupeng Liu, Zhehui Chen, Lulu Kang, Ruxuan He, Jinqing Song, Yi Liu, Chunyan Shi, Junya Chen, Hui Dong, Yao Zhang, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang
Summary: In this study, the accuracy of prenatal diagnosis of MMA was increased by using amniotic fluid biochemical assays using GC/MS and LC/MS/MS in parallel. Propionylcarnitine was found to be a more reliable marker than methylmalonic acid in amniotic fluid. Total homocysteine (tHcy) is recommended for the prenatal diagnosis of combined MMA and homocysteinemia.
Article
Food Science & Technology
Sunny Eloot, Jonathan De Rudder, Patrick Verloo, Evelyn Dhont, Ann Raes, Wim Van Biesen, Evelien Snauwaert
Summary: This study developed a user-friendly algorithm based on kinetic modeling for the treatment of acute neonatal hyperammonemia, allowing for personalized treatment based on measured changes in ammonia concentration during dialysis sessions.
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)
Article
Pediatrics
Esme Dunne, Daniel O'Reilly, Claire A. Murphy, Caoimhe Howard, Grainne Kelleher, Thomas Suttie, Michael A. Boyle, Jennifer J. Brady, Ina Knerr, Afif El Khuffash
Summary: Inborn errors of metabolism are rare but significant causes of mortality and morbidity in neonates. This study examines the contribution of newborn screening programs and clinician-initiated targeted biochemical screening to the identification of these errors. It also explores factors that may affect the reliability of metabolic testing in this population.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Cell & Tissue Engineering
Guillem Garcia-Llorens, Teresa Martinez-Sena, Eugenia Pareja, Laia Tolosa, Jose V. Castell, Roque Bort
Summary: Researchers have developed a novel approach to obtain hepatocytes from individuals through direct reprogramming. This method involves the use of a single doxycycline-inducible polycistronic vector system to express HNF4A, HNF1A, and FOXA3 in human fibroblasts previously transduced with hTERT. These cells can be easily differentiated into hepatocyte-like cells by adding doxycycline to the culture media, and can also be generated from patients with specific pathological phenotypes.
STEM CELL RESEARCH & THERAPY
(2023)
Article
Nutrition & Dietetics
Meriah S. Schoen, Usha Ramakrishnan, Jessica A. Alvarez, Thomas R. Ziegler, Xiangqin Cui, Rani H. Singh
Summary: This study compared choline consumption among individuals with phenylketonuria (PKU) to a reference sample and identified factors that may affect choline needs. The findings suggest that only a small percentage of PKU patients achieve adequate choline intake, and treatment methods can impact choline levels. Without fortified medical foods, choline and other related nutrient intake may be reduced. Regular monitoring of choline intake and increased fortification of medical foods could benefit this population.
Article
Nutrition & Dietetics
Liali Aljouda, Laura Nagy, Andreas Schulze
Summary: This study investigated the effectiveness of a diet restricted in long-chain triglycerides (LCTs) and supplemented with medium-chain triglycerides (MCTs) in reducing triglyceride levels and symptoms in children with lipoprotein lipase (LPL) deficiency. Results showed that the diet led to a significant drop in triglyceride levels in LPL patients and no disease-specific manifestations or complications. The study suggests that the LCT-restricted and MCT-supplemented diet is a feasible, well-tolerated, and clinically effective long-term management option for pediatric patients with LPL deficiency.
Article
Biochemistry & Molecular Biology
Ligia S. Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schroeder, Tomasz Bochinski, Anett Kaune, Alice Urzi, Tania C. L. S. Spohr, Nikenza Viceconte, Sebastian Oppermann, Mohammed Alasel, Saeedeh Ebadat, Sana Iftikhar, Eresha Jasinge, Solaf M. Elsayed, Hoda Tomoum, Iman Marzouk, Anil B. Jalan, Agne Cerkauskaite, Rimante Cerkauskiene, Tinatin Tkemaladze, Anjum Muhammad Nadeem, Iman Gamal El Din Mahmoud, Fawzia Amer Mossad, Mona Kamel, Laila Abdel Selim, Huma Arshad Cheema, Omid Paknia, Claudia Cozma, Carlos Juaristi-Manrique, Pilar Guatibonza-Moreno, Tobias Boettcher, Florian Vogel, Jorge Pinto-Basto, Aida Bertoli-Avella, Peter Bauer
Summary: This study presents the use of a multiomic approach, combining genetic and biochemical testing, as a first-line diagnostic tool for patients with inherited metabolic disorders (IMDs). The results show that this integrated approach facilitates the decision on clinical relevance of variants and has a high diagnostic yield, comparable to exome/genome sequencing. The study highlights the importance of this approach in providing accurate diagnoses and guiding medical treatments for IMDs.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Karen Driesen, Peter Witters
Summary: The application of metabolomics in researching inborn errors of metabolism is important for understanding disease mechanisms and developing novel therapeutic interventions. Different sample types, including biofluids, tissues or cells, can be used in the research, and the choice depends on specific circumstances.
Article
Genetics & Heredity
Kenan Direk, Winston Lau, Kerrin S. Small, Nikolas Maniatis, Toby Andrew
ANNALS OF HUMAN GENETICS
(2014)
Article
Cardiac & Cardiovascular Systems
Kenan Direk, Marina Cecelja, William Astle, Phil Chowienczyk, Tim D. Spector, Mario Falchi, Toby Andrew
BMC CARDIOVASCULAR DISORDERS
(2013)
Article
Endocrinology & Metabolism
Jennifer A. Nettleton, Nicola M. McKeown, Stavroula Kanoni, Rozenn N. Lemaitre, Marie-France Hivert, Julius Ngwa, Frank J. A. van Rooij, Emily Sonestedt, Mary K. Wojczynski, Zheng Ye, Tosh Tanaka
Article
Clinical Neurology
Guy D. Leschziner, Alison J. Coffey, Toby Andrew, Sheila P. Gregorio, Emmanuel Dias-Neto, Maria Calafato, David R. Bentley, Lucy Kinton, Josemir W. Sander, Michael R. Johnson
Article
Ophthalmology
F. Carbonaro, T. Andrew, D. A. Mackey, T. D. Spector, C. J. Hammond
Editorial Material
Genetics & Heredity
Kourosh R. Ahmadi, Toby Andrew
GENES AND NUTRITION
(2014)
Article
Biochemistry & Molecular Biology
Vardhman K. Rakyan, Thomas A. Down, Siarhei Maslau, Toby Andrew, Tsun-Po Yang, Huriya Beyan, Pamela Whittaker, Owen T. McCann, Sarah Finer, Ana M. Valdes, R. David Leslie, Panogiotis Deloukas, Timothy D. Spector
Article
Biochemistry & Molecular Biology
Stuart Macgregor, Alex W. Hewitt, Pirro G. Hysi, Jonathan B. Ruddle, Sarah E. Medland, Anjali K. Henders, Scott D. Gordon, Toby Andrew, Brian McEvoy, Paul G. Sanfilippo, Francis Carbonaro, Vikas Tah, Yi Ju Li, Sonya L. Bennett, Jamie E. Craig, Grant W. Montgomery, Khanh-Nhat Tran-Viet, Nadean L. Brown, Timothy D. Spector, Nicholas G. Martin, Terri L. Young, Christopher J. Hammond, David A. Mackey
HUMAN MOLECULAR GENETICS
(2010)
Article
Genetics & Heredity
Ioana Cotlarciuc, Toby Andrew, Tracy Dew, Gail Clement, Raj Gill, Gabriela Surdulescu, Roy Sherwood, Kourosh R. Ahmadi
JOURNAL OF NUTRIGENETICS AND NUTRIGENOMICS
(2011)
Article
Genetics & Heredity
Pirro G. Hysi, Terri L. Young, David A. Mackey, Toby Andrew, Alberto Fernandez-Medarde, Abbas M. Solouki, Alex W. Hewitt, Stuart Macgregor, Johannes R. Vingerling, Yi-Ju Li, M. Kamran Ikram, Lee Yiu Fai, Pak C. Sham, Lara Manyes, Angel Porteros, Margarida C. Lopes, Francis Carbonaro, Samantha J. Fahy, Nicholas G. Martin, Cornelia M. van Duijn, Timothy D. Spector, Jugnoo S. Rahi, Eugenio Santos, Caroline C. W. Klaver, Christopher J. Hammond
Article
Multidisciplinary Sciences
Toby Andrew, Cassandra D. Calloway, Sarah Stuart, Sang Hoon Lee, Raj Gill, Gail Clement, Philip Chowienczyk, Tim D. Spector, Ana M. Valdes
Article
Genetics & Heredity
Winston Lau, Toby Andrew, Nikolas Maniatis
AMERICAN JOURNAL OF HUMAN GENETICS
(2017)
Article
Ophthalmology
Margarida C. Lopes, Pirro G. Hysi, Virginie J. M. Verhoeven, Stuart Macgregor, Alex W. Hewitt, Grant W. Montgomery, Phillippa Cumberland, Johannes R. Vingerling, Terri L. Young, Cornelia M. van Duijn, Ben Oostra, Andre G. Uitterlinden, Jugnoo S. Rahi, David A. Mackey, Caroline C. W. Klaver, Toby Andrew, Christopher J. Hammond
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2013)
Article
Ophthalmology
Samantha J. Fahy, Cong Sun, Gu Zhu, Paul R. Healey, Tim D. Spector, Nicolas G. Martin, Paul Mitchell, Tien Y. Wong, David A. Mackey, Christopher J. Hammond, Toby Andrew
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2011)