Article
Genetics & Heredity
Katharina J. Weiss, Ursula Berger, Maliha Haider, Matias Wagner, E. M. Charlotte Maertner, Stephanie Regenauer-Vandewiele, Amelie Lotz-Havla, Elfriede Schuhmann, Wulf Roeschinger, Esther M. Maier
Summary: This study investigates the occurrence of secondary free carnitine deficiency and different biochemical phenotypes in MCADD patients with different genotypes and ages. It is found that C0 deficiency occurs earlier and more frequently in patients with c.985A>G homozygotes compared to compound heterozygotes and individuals with other variants. Moreover, individuals carrying the variant c.199C>T show consistently mild biochemical phenotypes.
Article
Endocrinology & Metabolism
Emmalie A. Jager, Merit Schaafsma, Melanie M. van der Klauw, M. Rebecca Heiner-Fokkema, Terry G. J. Derks
Summary: A retrospective observational study found no relationship between carnitine supplementation or secondary carnitine deficiency and the frequency and duration of acute unscheduled hospital visits, as well as the risk of fatigue, muscle ache, or exercise intolerance in patients with medium-chain Acyl-CoA dehydrogenase deficiency (MCADD).
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Editorial Material
Clinical Neurology
Brandon B. Holmes, Jeffrey B. Russ, Yvonne W. Wu, Renata C. Gallagher, Dawn Gano
Summary: The newborn male infant was born prematurely at 36 weeks, with low birth weight, but he behaved normally and breastfed well in the first 40 hours of life.
Article
Biochemistry & Molecular Biology
Rasmus Stenlid, Hannes Manell, Rikard Seth, Sara Y. Cerenius, Azazul Chowdhury, Camilla Roa Cortes, Isabelle Nyqvist, Thomas Lundqvist, Maria Halldin, Peter Bergsten
Summary: This study found that patients with VLCAD and MCAD have significantly lower plasma glucagon concentrations compared to patients with CUD, while the concentrations in the CUD group were similar to normative data, suggesting that glucagon secretion may be impaired in patients with VLCAD or MCAD.
Article
Biochemistry & Molecular Biology
Ravi R. Sonani, Artur Blat, Grzegorz Dubin
Summary: This study solved the crystal structures of human ACOX1a, revealing its homodimeric form and the binding of two FAD molecules at the active site. It also found that the substrate binding cleft of ACOX1a is wider compared to other fatty acid oxidation enzymes. Furthermore, the study analyzed the impact of mutations causing dysfunctionality of ACOX1a on its structure and function.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Pediatrics
Tracy L. McGregor, Susan A. Berry, Katrina M. Dipple, Rizwan Hamid
Summary: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a fatty acid oxidation disorder where patients cannot break down fats for energy. Pediatricians should provide acute clinical care for patients with MCADD and work with primary metabolic physicians to prevent adverse outcomes for children.
Article
Biology
Christoff Odendaal, Emmalie A. Jager, Anne-Claire M. F. Martines, Marcel A. Vieira-Lara, Nicolette C. A. Huijkman, Ligia A. Kiyuna, Albert Gerding, Justina C. Wolters, Rebecca Heiner-Fokkema, Karen van Eunen, Terry G. J. Derks, Barbara M. Bakker
Summary: The study developed and validated a kinetic model of mitochondrial fatty acid oxidation (mFAO) in human liver, and found that the phenotypic heterogeneity among different patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) may be attributed to differences in the free concentration of mitochondrial CoA and pathway flux. Personalized modeling of individual patients provides a novel explanation for phenotypic heterogeneity and could potentially improve individualized risk assessment, management, and monitoring for inborn errors of metabolism.
Article
Genetics & Heredity
Zhuwen Gong, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Yu Wang, Wenjun Ji, Ting Chen, Xuefan Gu, Lianshu Han
Summary: Medium-chain acyl-CoA dehydrogenase deficiency in a cohort of Chinese patients showed mild clinical phenotypes with low mortality and positive prognoses. Early diagnosis through newborn screening is crucial for treatment and prognosis of this disorder. Genetic testing revealed both known and novel mutations in the ACADM gene among the patients.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Zhesi Zhu, Zhen Han, Levon Halabelian, Xiangkun Yang, Jun Ding, Nawei Zhang, Liza Ngo, Jiabao Song, Hong Zeng, Maomao He, Yingming Zhao, Cheryl H. Arrowsmith, Minkui Luo, Michael G. Bartlett, Y. George Zheng
Summary: Lysine isobutyrylation (Kibu) is a newly discovered posttranslational chemical modification on nuclear histones, derived from isobutyryl-CoA. Various histone acetyltransferases exhibit lysine isobutyryltransferase activity in vitro, with p300 being a major regulator of histone isobutyrylation levels in cells. The X-ray crystal structures of HAT1 in complex with isobutyryl-CoA provide insight into HAT-catalyzed isobutyrylation, and RNA-Seq profiling shows that isobutyrate greatly affects gene expression in pivotal biological pathways.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Pediatrics
Gaopin Yuan, Xiaohong Zhang, Tingli Chen, Jiansheng Lin
Summary: This study characterizes two siblings with late-onset MADD caused by mutations in the ETFDH gene. Genetic analysis revealed compound heterozygous variants c.1842_1845dup and c.250G>A in both patients. The novel mutation c.1842_1845dup was rated as likely pathogenic. This study expands the mutation spectrum of ETFDH and provides important clinical information for patients with late-onset MADD.
FRONTIERS IN PEDIATRICS
(2023)
Article
Clinical Neurology
Po-Yu Lin, Wen-Chen Liang, Wei-An Liao, Yuan-Ting Sun
Summary: This case report describes a 28-year-old woman with multiple acyl-CoA dehydrogenase deficiency (MADD) who presented symptoms after using antiobesity drugs. Rapid improvement was observed after treatment with riboflavin, carnitine, and ubiquinone. The use of antiobesity drugs as a possible provoking factor in fatty acid oxidation disorder is discussed, emphasizing the importance of recognition and proactive management by clinicians.
Article
Medicine, General & Internal
Ibidapo Q. Yusuf, Aadithiyavikram Venkatesan, Faith C. Okafor, Athar Yasin, Samson O. Oyibo
Summary: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare autosomal recessive genetic disease involving impaired fatty acid metabolism. It can lead to hypoketotic hypoglycemia and the accumulation of toxic fatty acids. This case report highlights the importance of effective communication between the patient, their parents, and the treating clinicians, obtaining the emergency care plan and recommendations, and communicating with the metabolic disease specialist.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Clinical Neurology
Huihong Tian, Yi Zhong, Zhihua Liu, Liping Wei, Yanbo Yuan, Yuhu Zhang, Limin Wang
Summary: This study reports a case of lipid storage myopathy diagnosed as multiple acyl-CoA dehydrogenase deficiency through next-generation sequencing. By analyzing the genetic variations in the patient and his family members, compound heterozygous mutations in the ETFDH gene were identified, highlighting the significance of these mutations in the diagnosis of MADD.
FRONTIERS IN NEUROLOGY
(2022)
Article
Medical Laboratory Technology
Bijun Zhang, Yanyan Zhao
Summary: This article reports a patient who has been diagnosed with Down syndrome and multiple acyl-CoA dehydrogenase deficiency (MADD), and identifies a novel mutation in the ETFDH gene. Further molecular analysis reveals that this mutation enhances the degradation of ETF-QO protein through the ubiquitin proteasome pathway.
CLINICA CHIMICA ACTA
(2022)
Article
Medicine, General & Internal
Patricia Alcaide, Isaac Ferrer-Lopez, Leticia Gutierrez, Fatima Leal, Elena Martin-Hernandez, Pilar Quijada-Fraile, Marcello Bellusci, Ana Morais, Consuelo Pedron-Giner, Dolores Rausell, Patricia Correcher, Maria Unceta, Sinziana Stanescu, Magdalena Ugarte, Pedro Ruiz-Sala, Belen Perez
Summary: This study analyzed the newborn screening and confirmatory test results of 40 individuals and classified patients into two groups based on their acylcarnitine profiles, genetic findings, and residual enzyme activities. The results showed that a combined evaluation of these factors is useful in predicting disease severity and guiding treatment decisions.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pediatrics
Emma Butcher, Carol Dezateux, Rachel L. Knowles
ARCHIVES OF DISEASE IN CHILDHOOD
(2020)
Editorial Material
Primary Health Care
John Robson, Ngawai Moss, Patricia McGettigan, Samantha Jane Beardsley, Elizabeth Lovegrove, Carol Dezateux
BRITISH JOURNAL OF GENERAL PRACTICE
(2020)
Article
Medicine, General & Internal
Jane Lyons, Ashley Akbari, Utkarsh Agrawal, Gill Harper, Amaya Azcoaga-Lorenzo, Rowena Bailey, James Rafferty, Alan Watkins, Richard Fry, Colin McCowan, Carol Dezateux, John P. Robson, Niels Peek, Chris Holmes, Spiros Denaxas, Rhiannon Owen, Keith R. Abrams, Ann John, Dermot O'Reilly, Sylvia Richardson, Marlous Hall, Chris P. Gale, Jan Davies, Chris Davies, Lynsey Cross, John Gallacher, James Chess, Anthony J. Brookes, Ronan A. Lyons
Summary: The WMC is a research initiative in Wales to study multimorbidity using demographic and health record data, aiming to understand prevalence, trajectories, and determinants of multiple long-term conditions. The study findings will be disseminated through presentations at various conferences and publication in peer-reviewed journals.
Letter
Medicine, General & Internal
John Robson, Alexander Miller, Jayne Taylor, Kambiz Boomla, Sally Hull, Carol Dezateux
BMJ-BRITISH MEDICAL JOURNAL
(2021)
Article
Pediatrics
Nicola Firman, John Robson, Zaheer Ahmed, Kambiz Boomla, Carol Dezateux
Summary: The study found that children's BMI is not comprehensively recorded in urban general practice. Linking to school measurement records is feasible and enables assessment of health outcomes of obesity.
Editorial Material
Primary Health Care
Sally A. Hull, Kambiz Boomla, Carol Dezateux, John Robson
BRITISH JOURNAL OF GENERAL PRACTICE
(2021)
Article
Immunology
Helen Bedford, Nicola Firman, Jo Waller, Laura Marlow, Alice Forster, Carol Dezateux
Summary: The study found that in the UK, young women from low-income households, not attending school, ever excluded from school, or from Black African or other minority ethnic backgrounds were less likely to initiate HPV vaccination. 53.3% of parents reported reasons for non-initiation consistent with a conscious or practical decision.
Article
Public, Environmental & Occupational Health
Emma Butcher, Mario Cortina-Borja, Carol Dezateux, Rachel Knowles
Summary: This study explores the association between childhood hearing loss and poor mental health outcomes, such as depressive symptoms, self-harm, and peer victimization. The results show that children with hearing loss have higher odds of experiencing these mental health issues, especially girls. The longer the duration of hearing loss, the stronger the association with these outcomes.
Article
Respiratory System
Evelien R. van Meel, Sara M. Mensink-Bout, Herman T. den Dekker, Tarunveer S. Ahluwalia, Isabella Annesi-Maesano, Syed Hasan Arshad, Nour Baiz, Henrique Barros, Andrea von Berg, Hans Bisgaard, Klaus Bonnelykke, Christian J. Carlsson, Maribel Casas, Leda Chatzi, Cecile Chevrier, Geertje Dalmeijer, Carol Dezateux, Karel Duchen, Merete Eggesbo, Cornelis van der Ent, Maria Fantini, Claudia Flexeder, Urs Frey, Fransesco Forastiere, Ulrike Gehring, Davide Gori, Raquel Granell, Lucy J. Griffiths, Hazel Inskip, Joanna Jerzynska, Anne M. Karvonen, Thomas Keil, Cecily Kelleher, Manolis Kogevinas, Gudrun Koppen, Claudia E. Kuehni, Nathalie Lambrechts, Susanne Lau, Irina Lehmann, Johnny Ludvigsson, Maria Christine Magnus, Erik Melen, John Mehegan, Monique Mommers, Anne-Marie Nybo Andersen, Wenche Nystad, Eva S. L. Pedersen, Juha Pekkanen, Ville Peltola, Katharine C. Pike, Angela Pinot de Moira, Costanza Pizzi, Kinga Polanska, Maja Popovic, Daniela Porta, Graham Roberts, Ana Cristina Santos, Erica S. Schultz, Marie Standl, Jordi Sunyer, Carel Thijs, Laura Toivonen, Eleonora Uphoff, Jakob Usemann, Marina Vafeidi, John Wright, Johan C. de Jongste, Vincent W. V. Jaddoe, Liesbeth Duijts
Summary: Early-life lower respiratory tract infections may increase the risk of asthma and lower lung function in school-age children. The study also found that early-life lower respiratory tract infections have the strongest impact on respiratory diseases in children with wheezing.
EUROPEAN RESPIRATORY JOURNAL
(2022)
Article
Immunology
Suzanne Walton, Mario Cortina-Borja, Carol Dezateux, Lucy J. Griffiths, Karen Tingay, Ashley Akbari, Amrita Bandyopadhyay, Ronan A. Lyons, Richard Roberts, Helen Bedford
Summary: This study explores the socio-demographic factors associated with delayed vaccination of the Diphtheria, Tetanus, and Pertussis (DTP) vaccine. The findings suggest that children with older siblings, those admitted to special/intensive care, those with higher birth weight, and boys are more likely to experience delayed vaccination. However, increasing maternal age and having a mother with a graduate degree are associated with a reduced risk of delayed vaccination.
Article
Medicine, General & Internal
Milena Marszalek, Meredith K. D. Hawking, Ana Gutierrez, Isabel Dostal, Zaheer Ahmed, Nicola Firman, John Robson, Helen Bedford, Anna Billington, Ngawai Moss, Carol Dezateux
Summary: This study aims to evaluate the effectiveness, fidelity, and sustainability of a data-enabled quality improvement program using an Active Patient Link Immunisation (APL-Imms) call and recall system to improve the timeliness and equity of childhood vaccinations in a multiethnic disadvantaged urban population. The study will use qualitative methods to evaluate program delivery and focus on uptake, implementation barriers, and service improvements for primary care staff. The findings will be disseminated in a peer-reviewed journal and to stakeholders.
Article
Medicine, General & Internal
Nicola Firman, Milena Marszalek, Ana Gutierrez, Kate Homer, Crystal Williams, Gill Harper, Isabel Dostal, Zaheer Ahmed, John Robson, Carol Dezateux
Summary: The COVID-19 pandemic has significantly affected the timeliness and inequalities in the receipt of MMR vaccination, leading to a decrease in timely vaccination rates and increased geographical clustering of measles susceptibility. Immediate action is needed to prevent measles outbreaks and support primary care in delivering timely and equitable vaccinations.
Article
Public, Environmental & Occupational Health
Meredith K. D. Hawking, Carol Dezateux, Deborah Swinglehurst
Summary: The English National Child Measurement Programme (NCMP) serves as a public health program in the UK aimed at reducing childhood obesity. It collects data on child excess weight indicators and influences the responsibilities and practices of overweight children, parents, and carers. This study reveals that being categorized as overweight by the NCMP has emotional implications, leading to changes in bodily practices, food habits, and social relationships.
CRITICAL PUBLIC HEALTH
(2023)
Review
Pediatrics
Nicola Firman, Marta Wilk, Gill Harper, Carol Dezateux
Summary: Children with obesity at school entry are more likely to be diagnosed with musculoskeletal conditions during childhood, which can have an impact on their quality of life and future musculoskeletal health.
BMJ PAEDIATRICS OPEN
(2022)
Article
Health Care Sciences & Services
Gill Harper, David Stables, Paul Simon, Zaheer Ahmed, Kelvin Smith, John Robson, Carol Dezateux
Summary: The open-source deterministic ASSIGN address-matching algorithm showed high accuracy and minimal biases when applied to general practitioner-recorded patient addresses. It has the potential to be used in various address-based datasets for research and public benefit.
INTERNATIONAL JOURNAL OF POPULATION DATA SCIENCE (IJPDS)
(2021)
