Results 21 to 30 of about 350 (155)
Molecular Genetics & Genomic Medicine, 2021 Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene.
Kaili Shi +4 more
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Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes [PDF]
Pediatric Research, 2014 Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive speech and delay in achieving developmental milestones. Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency ...
Joseph F, Clark, Kim M, Cecil
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Journal of Investigative Medicine High Impact Case Reports, 2023 Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including global developmental delay (GDD), intellectual disability (ID), seizures, hypotonia, and ...
Christina G. Tise MD, PhD +3 more
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Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency
Annals of Indian Academy of Neurology, 2020 Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS).
Vinu Narayan +3 more
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Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
Orphanet Journal of Rare Diseases, 2020 Background Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
Shalini Bahl +4 more
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Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
Frontiers in Neuroscience, 2021 Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
Tamara Žigman +3 more
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Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China
Translational Pediatrics, 2023 This study sought to analyze the clinical characteristics, biochemical metabolic indications, treatment results, and genetic spectrum of cerebral creatine deficiency syndrome (CCDS), estimate the prevalence of CCDS in Chinese children and provide a reference to guide clinical practice.We performed a retrospective cohort study of 3,568 children with ...
Sun, Weihua +9 more
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Neurobiology of Disease, 2015 Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetate in
Layane Hanna-El-Daher +4 more
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Novel translational phenotypes and biomarkers for creatine transporter deficiency [PDF]
, 2020 Creatine transporter deficiency is a metabolic disorder characterized by intellectual disability, autistic-like behaviour and epilepsy. There is currently no cure for creatine transporter deficiency, and reliable biomarkers of translational value for ...
Sagona, Giulia +11 more
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Value of magnetic resonance spectroscopy for diagnosis of creatine deficiency syndrome
, 2021 WOS:000633691200001Creatine deficiency syndromes are congenital metabolic diseases characterized by decreased cerebral creatine levels as a result of disorders in creatine synthesis and transport.
Hattapoğlu, Salih +2 more
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