Results 31 to 40 of about 350 (155)

Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis

JCI Insight, 2021
The creatine transporter (CrT) maintains brain creatine (Cr) levels, but the effects of its deficiency on energetics adaptation under stress remain unclear.
Hong-Ru Chen, Xiaohui Zhang-Brotzge, Yury M. Morozov, Yuancheng Li, Siming Wang, Helen Heju Zhang, Irena S. Kuan, Elizabeth M. Fugate, Hui Mao, Yu-Yo Sun, Pasko Rakic, Diana M. Lindquist, Ton DeGrauw, Chia-Yi Kuan   +13 more
doaj   +1 more source

Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency [PDF]

, 2021
Guanidinoacetate methyltransferase deficiency (GAMT-D) is one of three cerebral creatine (Cr) deficiency syndromes due to pathogenic variants in the GAMT gene (19p13.3).
Rossi L., Magnani M., Nardecchia F., Ventura R., Cabib S., Leuzzi V., Carducci C., Pierige F., Pascucci T.   +8 more
core   +3 more sources

Disorders of creatine metabolism

, 2022
Primary disorders of creatine metabolism are a group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT, encoded by GATM), guanidinoacetate methyltransferase (GAMT, encoded by GAMT) deficiencies), and the X-linked creatine ...
Mercimek-Andrews, Saadet, Salomons, Gajja S., Stöckler-Ipsiroglu, Sylvia   +2 more
core   +1 more source

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Molecular Genetics and Metabolism Reports, 2023
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay.
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter   +14 more
doaj   +1 more source

The Concept of Folic Acid in Health and Disease

Molecules, 2021
Folates have a pterine core structure and high metabolic activity due to their ability to accept electrons and react with O-, S-, N-, C-bounds.
Yulia Shulpekova, Vladimir Nechaev, Svetlana Kardasheva, Alla Sedova, Anastasia Kurbatova, Elena Bueverova, Arthur Kopylov, Kristina Malsagova, Jabulani Clement Dlamini, Vladimir Ivashkin   +9 more
doaj   +1 more source

Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

Molecular Genetics and Metabolism Reports
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficiency syndromes. Cerebral creatine depletion and accumulation of guanidinoacetate (GAA) lead to clinical presentation with intellectual disability, seizures,
Lara M. Marten, Ralph Krätzner, Gajja S. Salomons, Matilde Fernandez Ojeda, Peter Dechent, Jutta Gärtner, Peter Huppke, Steffi Dreha-Kulaczewski   +7 more
doaj   +1 more source

Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center

The Turkish Journal of Pediatrics, 2021
Background. There is increased awareness regarding the co-occurrence of autism spectrum disorder (ASD) and inherited metabolic disorders (IMD), and this is crucial for the management of both diagnoses in clinical practice.
Tuba Çelen Yoldaş, Berrak Bilginer Gürbüz, Halil Tuna Akar, Elif Nursel Özmert, Turgay Coşkun   +4 more
doaj   +1 more source

X-linked creatine transporter deficiency: clinical aspects and pathophysiology

, 2014
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and ...
van de Kamp, J.M., Salomons, GS, Mancini, G.M., van de Kamp, JM, Verheijen - Mancini, Grazia, Salomons, G.S.   +5 more
core   +1 more source

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Scientific Reports, 2022
Untargeted metabolomics is a global molecular profiling technology that can be used to screen for inborn errors of metabolism (IEMs). Metabolite perturbations are evaluated based on current knowledge of specific metabolic pathway deficiencies, a manual ...
Lillian R. Thistlethwaite, Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman, Michael F. Wangler, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic   +9 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source