Results 61 to 70 of about 12,046 (150)

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Orphanet Journal of Rare Diseases, 2008
Background Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1 ...
Guffon Nathalie, Vianey-Saban Christine, Acquaviva Cécile, Fouilhoux Alain, Forest Isabelle, Levrat Virginie   +5 more
doaj   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, EarlyView.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures

Orphanet Journal of Rare Diseases, 2013
Background Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids.
Jafari Paris, Braissant Olivier, Zavadakova Petra, Henry Hugues, Bonafé Luisa, Ballhausen Diana   +5 more
doaj   +1 more source

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans

FEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe   +4 more
doaj   +1 more source

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BMC Medical Genetics, 2020
Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen   +9 more
doaj   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 more
wiley   +1 more source

Higher vitamin B12 from mid‐ to late life is related to slower rates of cognitive decline

Alzheimer's &Dementia, Volume 21, Issue 10, October 2025.
Abstract INTRODUCTION Evidence is needed to evaluate whether low vitamin B12 from mid‐ to late life, either alone or in the presence of elevated folate, is associated with cognitive decline. METHODS Participants from the Framingham Heart Study without baseline dementia who had ≥ 2 measures of a three‐component vitamin B12 indicator (3cB12) and ...
Francesca R. Marino, Gail Rogers, Joshua W. Miller, Jacob Selhub, Jesse Mez, Paul K. Crane, Shubhabrata Mukherjee, Andrew J. Saykin, Timothy J. Hohman, Emily H. Trittschuh, Rhoda Au, Paul F. Jacques, Phillip H. Hwang   +12 more
wiley   +1 more source

Design Strategies for Novel Lipid Nanoparticle for mRNA Vaccine and Therapeutics: Current Understandings and Future Perspectives

MedComm, Volume 6, Issue 10, October 2025.
This review summarizes strategies to optimize lipid nanoparticles (LNPs) for improved targeting, endosomal escape, and safety. It highlights mRNA design, alternative delivery systems, and recent therapeutic advances across infectious diseases, cancer, and drug applications.
Xiaochi Li, Junli Li, Jiazheng Wei, Weixin Du, Cheng Su, Xiaobin Shen, Aihua Zhao, Miao Xu   +7 more
wiley   +1 more source