Article
Biochemistry & Molecular Biology
Olga M. Sokolovskaya, Tanja Plessl, Henry Bailey, Sabrina Mackinnon, Matthias R. Baumgartner, Wyatt W. Yue, D. Sean Froese, Michiko E. Taga
Summary: This study examined the impact of various cobamide cofactors on the function of MMUT and found differences in how they support the enzyme, as well as variations in the catalytic rescue of disease-associated MMUT variants. The findings challenge the sole focus on cobalamin in human physiology, suggesting that diverse cobamides can play a role in supporting human enzyme function.
Article
Nutrition & Dietetics
He Helen Huang, Alan A. Cohen, Pierrette Gaudreau, Christiane Auray-Blais, David Allard, Michel Boutin, Isabelle Reid, Valerie Turcot, Nancy Presse
Summary: The study found a higher risk of vitamin B-12 deficiency among older adults. Dietary intake of vitamin B-12, especially from dairy sources, was associated with a decreased risk of low vitamin B-12 status and deficiency in older adults. Different food groups may have different contributions to reducing the risk of deficiency in older populations.
JOURNAL OF NUTRITION
(2022)
Article
Nutrition & Dietetics
Ben Carter, Zohra Zenasni, Stuart J. Moat, Peter R. Hudson, Ian T. Russell, Andrew McCaddon
Summary: The study aimed to determine the impact of folic acid supplementation on plasma MMA concentration in individuals with low or marginal serum vitamin B-12. The results showed that folic acid supplementation leads to an increase in serum and RBC folate levels, but does not change plasma MMA concentration in individuals with serum vitamin B-12 between 150 and 280 ng/L. Effects in older people or those with serum vitamin B-12 <150 ng/L cannot be excluded.
JOURNAL OF NUTRITION
(2021)
Article
Endocrinology & Metabolism
Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, Pascale De Lonlay, Nathalie Guffon-Fouilhoux, Anais Brassier, Aline Cano, Brigitte Chabrol, Alessandra Pennisi, Manuel Schiff, Cecile Acquaviva, Elaine Murphy, Aude Servais, Robin Lachmann
Summary: This study presents the long-term follow-up of patients with cobalamin A (cblA) deficiency. Most of the patients were diagnosed before the enzymatic and molecular era. The study highlights the importance of measuring methylmalonic aciduria (MMA) in cases of unexplained chronic renal failure, intellectual disability, or growth delay. Early vitamin B12 supplementation seems to protect against severe renal insufficiency.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Medicine, General & Internal
J. Bernards, P. Doubel, G. Meeus, E. Lerut, A. Corveleyn, L. P. Van Den Heuvel, W. Meersseman, D. K. Kuypers, K. J. Claes
Summary: This case describes a patient with TMA caused by malignant hypertension and severe hyperhomocysteinemia, with possible pathogenic mutations in the alternative complement pathway. Complete diagnostic testing is essential for patients with TMA.
ACTA CLINICA BELGICA
(2021)
Article
Biochemistry & Molecular Biology
Rosa Passantino, Maria Rosalia Mangione, Maria Grazia Ortore, Maria Assunta Costa, Alessia Provenzano, Heinz Amenitsch, Raffaele Sabbatella, Caterina Alfano, Vincenzo Martorana, Silvia Vilasi
Summary: cblC disease is a congenital disorder characterized by metabolic dysfunction and severe clinical symptoms. A common mutation, p.R132X, was found to retain partial function and maintain structural stability. This study provides insights into the structural and functional properties of the mutant protein MMACHC-R132X and its binding affinity for Cbl.
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
(2022)
Article
Pediatrics
Musaad Abukhaled, Laila Alrakaf, Hesham Aldhalaan, Suad Al Yamani
Summary: This article describes three patients with AADC deficiency managed in Saudi Arabia. Delayed diagnosis was observed due to non-specific symptoms, lack of disease awareness among primary care physicians, and delays in genetic testing. Clinical outcomes for all three cases were poor, highlighting the need to raise awareness and improve diagnostic testing for rare diseases like AADC deficiency in Saudi Arabia.
FRONTIERS IN PEDIATRICS
(2023)
Article
Genetics & Heredity
Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair, Majid Alfadhel
Summary: DCMA is a rare genetic mitochondrial syndrome characterized by dilated cardiomyopathy and increased urinary excretion of 3-methylglutaconic acid. A novel variant in the DNAJC19 gene causing this syndrome was identified, highlighting the high clinical and genetic heterogeneity of the disease.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Genetics & Heredity
Julia M. Wang, Daniel V. Ho, Amy Kritzer, Jefferson Y. Chan
Summary: A mutation in the NFE2L1 gene results in a truncated peptide that inhibits the transactivation function of wild-type proteins. This diminished NFE2L1 function may explain the various symptoms observed in the patient.
Article
Genetics & Heredity
Clara Hildebrandt, Anne Fulton, Lance H. Rodan
Summary: This study describes a 15-month-old girl with a homozygous deletion in the 21q22 region, leading to the loss of multiple genes. Her symptoms include hypotonia, developmental delay, and retinopathy. The role of the absent genes in contributing to her phenotype remains unclear at this time.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Clinical Neurology
Ulf Wike Ljungblad, Henriette Paulsen, Lars Morkrid, Rolf D. Pettersen, Helle Borgstrom Hager, Morten Lindberg, Henriette Astrup, Erik A. Eklund, Anne-Lise Bjorke-Monsen, Terje Rootwelt, Trine Tangeraas
Summary: The study investigated the prevalence of hyperhomocysteinemia in healthy infants in Norway and found associations between symptoms suggestive of infant B12 deficiency, such as tremor and excessive sleep, and increased levels of tHcy. Factors such as duration of infant formula use were identified as predictors for hyperhomocysteinemia, which could potentially impact psychomotor development in infants.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Medicine, General & Internal
Heba Ali Aldarawsha, Sura Ahmed AlDoory, Shafiqa Mohamed Saleh, Nidheesh Cheeyancheri Chencheri
Summary: This case report describes a 7-month-old boy who presented with epistaxis and was found to have pancytopenia, hepatosplenomegaly, acral hyperpigmentation, and hypotonia. He also had mild delayed milestones. Further investigation revealed a deficiency in vitamin B12, and after commencing vitamin B12 therapy, the patient's blood cell lines normalized, neurological symptoms improved, hepatosplenomegaly regressed, and milestones were achieved.
DUBAI MEDICAL JOURNAL
(2022)
Article
Nutrition & Dietetics
Courtney R. Benoit, Darren J. Walsh, Levan Mekerishvili, Nadia Houerbi, Abigail E. Stanton, David M. McGaughey, Lawrence C. Brody
Summary: The study found that offspring from tcn2(-/-) female zebrafish exhibit significant developmental and metabolic defects, indicating a maternal genetic effect that can be rescued with vitamin B-12 supplementation. Transcriptome analysis showed distinct expression profiles in offspring from a tcn2(-/-) female compared to offspring from a tcn2(+/+) female, with dysregulation of visual perception, fatty acid metabolism, and neurotransmitter signaling pathways.
JOURNAL OF NUTRITION
(2021)
Article
Primary Health Care
Sasivara Boonrusmee, Staporn Kasemsripitak, Thitiporn Navykarn, Somchit Jaruratanasirikul
Summary: This study investigated the association between vitamin D levels and anemia in infants in Thailand. It found that infants with anemia, short duration of sunlight exposure, breastfeeding, low vitamin D intake, and low iron intake were more likely to have vitamin D insufficiency. However, anemia was not an independent risk factor for vitamin D insufficiency. The study suggests that vitamin D supplementation should be considered for infants with anemia or breastfeeding, particularly those with inadequate sunlight exposure and low vitamin D intake.
Article
Education & Educational Research
Nur Amirah Inani Sabri, Wan Ying Gan, Leh Shii Law, Yit Siew Chin, Zalilah Mohd Shariff
Summary: This cross-sectional study examined the associations between sociodemographic and nutritional factors with cognitive and motor delays in infants. The results demonstrated a high prevalence of cognitive and motor delay, with anemia and breastfeeding practices influencing these delays.
EARLY CHILD DEVELOPMENT AND CARE
(2022)
Letter
Pediatrics
Marketa Tesarova, Viktor Stranecky, Petra Konecna, Dagmar Prochazkova, Helena Hulkova, Jiri Zeman, Tomas Honzik, Martin Magner
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Josef Marek, Petr Kuchynka, Vladimir Mikulenka, Tomas Palecek, Jakub Sikora, Helena Hulkova, Lukas Lambert, Hana Linkova, David Zemanek, Marketa Tesarova, Ales Linhart, Jiri Zeman, Martin Magner
Summary: MPS VII is a rare lysosomal storage disorder caused by mutations in the GUSB gene. Patients often present with cardiac and valvular impairment. Surgical intervention can lead to significant improvement in clinical symptoms.
CARDIOVASCULAR PATHOLOGY
(2021)
Article
Endocrinology & Metabolism
Jitka Majovska, Igor Nestrasil, Amy Paulson, David Nascene, Katarina Jurickova, Anna Hlavata, Troy Lund, Paul J. Orchard, Manuela Vaneckova, Jiri Zeman, Martin Magner, Petr Dusek
Summary: This study characterized brain MRI findings in alpha-mannosidosis (AM) patients, showing that white matter changes and cerebellar atrophy are characteristic features. Other non-CNS abnormalities were also observed. The study did not detect previously reported decreases in T-2 signal intensity in the basal ganglia and thalami.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Biology
Jana Krizova, Martina Hulkova, Vaclav Capek, Petr Mlejnek, Jan Silhavy, Marketa Tesarova, Jiri Zeman, Hana Hansikova
Summary: Research findings suggest significant changes in over 1000 mitochondrial genes in both rat liver and skeletal muscle, with the most pronounced shift occurring at least two days before birth in rat liver. Evaluation of Coenzyme Q in both rat and human tissues shows a significant increase in total CoQ content and mitochondrial metabolism postnatally, potentially regulated by COQ8A kinase.
Article
Pediatrics
Marketa Zemanova, Petr Chrastina, Vaclav Sebron, Dagmar Prochazkova, Helena Jahnova, Petra Sanakova, Lucie Prochazkova, Barbara Tesarova, Jiri Zeman
Summary: Extremely low birthweight neonates with PKU require special dietary management. Phenylalanine levels normalised in ELBW neonates with PKU within 1 week of the introduction of low-phenylalanine parenteral or enteral nutrition. Tolerance to phenylalanine was very high in the first months of life due to rapid weight gain, but decreased significantly during infancy.
Article
Food Science & Technology
Jan Triska, Josef Balik, Milan Houska, Pavla Novotna, Martin Magner, Nadezda Vrchotova, Pavel Hic, Ladislav Jilek, Katerina Thorova, Petr Snurkovic, Ivo Soural
Summary: Sulforaphane, a unique compound known for its health benefits, can be increased in broccoli sprouts by controlling temperature and adding co-factors. These technological steps are important for preserving sulforaphane, but there are limitations in the amount that can be achieved. By focusing on the extraction process, researchers aim to increase the amount of sulforaphane in the final extract for potential use as a dietary supplement.
Article
Clinical Neurology
Jitka Majovska, Anita Hennig, Igor Nestrasil, Susanne A. Schneider, Helena Jahnova, Manuela Vaneckova, Martin Magner, Petr Dusek
Summary: Late-onset Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment. On brain MRI, pontocerebellar atrophy is a constant finding in LOTS patients. These characteristic clinical and MRI findings can help in the differential diagnosis of adult-onset cerebellar ataxias.
NEUROLOGICAL SCIENCES
(2022)
Article
Genetics & Heredity
Martin Reboun, Jakub Sikora, Martin Magner, Helena Wiederlechnerova, Alena Cerna, Helena Poupetova, Gabriela Storkanova, Dita Musalkova, Gabriela Dostalova, Lubor Golan, Ales Linhart, Lenka Dvorakova
Summary: This study aimed to evaluate X-chromosome inactivation (XCI) testing in female Fabry disease (FD) patients. The results showed that combining multiple testing methods generates more reliable results, correlating XCI with gene expression and enzyme activity helps identify crossover events, and age and tissue-specific patterns should be considered.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Anna Tylki-Szymanska, Zsuzsanna Almassy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kiec-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe
Summary: This study analyzed the management and treatment of mucopolysaccharidoses (MPS), a group of lysosomal storage disorders, in Southern and Eastern European countries. The results showed that the region has a high number of MPS patients and a high level of care. However, there are challenges in implementing enzyme replacement therapy (ERT) and conducting certain assessments due to a lack of skilled specialists. The study suggests simplifying the availability and reimbursement of ERT and implementing educational programs for specialists.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Genetics & Heredity
Hana Stufkova, Hana Kolarova, Katerina Lokvencova, Tomas Honzik, Jiri Zeman, Hana Hansikova, Marketa Tesarova
Summary: In this study, a new pathogenic variant in mitochondrial DNA was discovered, associated with symptoms including myoclonus, epilepsy, muscle weakness, and hearing impairment. The variant was found in the MTTK gene with a mutation load ranging from 71% to >96% in tested tissues. The study also revealed decreased respiratory chain complex activities in muscle mitochondria. This finding expands the spectrum of MTTK variants associated with mitochondrial encephalopathies in adults.
Review
Health Care Sciences & Services
Lorena Diaz-Ordonez, Estephania Candelo, Katherine Silva-Cuero, Wilmar Saldarriaga, Lenka Murgasova, Martin Magner, Harry Pachajoa
Summary: This scoping review aims to understand the evidence regarding the pathophysiology, classification, epidemiology, and clinical management of hearing loss in MPS IVA patients, as well as the effect of therapy for hearing loss. The review will gather relevant literature and analyze the data for descriptive reporting.
JMIR RESEARCH PROTOCOLS
(2022)
Article
Genetics & Heredity
Maria Lucia Cediel, Michal Stawarski, Xavier Blanc, Lenka Noskova, Martin Magner, Konrad Platzer, Janina Gburek-Augustat, Dustin Baldridge, John N. Constantino, Emmanuelle Ranza, Bernhard Bettler, Stylianos E. Antonarakis
Summary: GABA(B) receptors are responsible for neuronal inhibition in the central nervous system. Variants in GABBR2 have been associated with certain phenotypes, while no phenotypes have been established for GABBR1 variants. This study identified four GABBR1 variants in individuals with motor and/or language delay, and functional characterization revealed their impact on GABA potency and efficacy, providing insights into disease severity and potential therapeutic strategies.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Endocrinology & Metabolism
John J. Mitchell, Barbara K. Burton, Michael B. Bober, Philippe M. Campeau, Shelda Cohen, Sara Dosenovic, Carolyn Ellaway, Kaustuv Bhattacharya, Nathalie Guffon, David Hinds, Alice Lail, Shuan-Pei Lin, Martin Magner, Julian Raiman, Liat Schwartz-Sagi, Karolina M. Stepien
Summary: The Morquio A Registry Study (MARS) is an ongoing multinational observational study that aims to characterize the disease heterogeneity and natural history of MPS IVA and evaluate the long-term effectiveness and safety of elosulfase alfa enzyme replacement therapy (ERT). The study has enrolled 381 subjects from 17 countries, and the data collected over the first 6 years show that ERT treatment can stabilize endurance and respiratory function without new safety concerns.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Genetics & Heredity
Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C. E. Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J. L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloe Quelin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umana, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, Gregory M. Cooper
Summary: Using the MatchMaker Exchange, researchers identified rare protein-altering variations in the ZMYM3 gene in a cohort of 27 individuals with neurodevelopmental disorders (NDDs). These variations affected protein structure and function and were associated with developmental delay, intellectual disability, behavioral abnormalities, and specific facial features. The evidence from evolutionary conservation, protein modeling, and functional experiments strongly supports ZMYM3 as an NDD-associated gene.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Nutrition & Dietetics
Martin Magner, Katerina Thorova, Veronika Zupova, Milan Houska, Ivana Svandova, Pavla Novotna, Jan Triska, Nadezda Vrchotova, Ivo Soural, Ladislav Jilek
Summary: This study examined the effects of sulforaphane on autistic behavior in children aged 3-7 years with autism spectrum disorder. However, the results showed no significant improvement in the behavioral outcome measures after 36 weeks of treatment with sulforaphane.
Article
Clinical Neurology
Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Summary: This study aimed to describe the use of melatonin by Italian pediatricians in healthy children with chronic insomnia. The results showed that a high percentage of pediatricians prescribed melatonin, especially in children aged 1-2 years. The most common dosage was 1 mg/day and it was usually recommended to be taken 30 minutes before bedtime. Melatonin was often combined with sleep hygiene and was found to be effective in reducing difficulties falling asleep.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)