Dopamine Transporter Deficiency Syndrome: A Case with Hyper‐ and Hypokinetic Extremes
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DOI: 10.1002/mdc3.13064
Abstract: Dopamine transporter deficiency syndrome (DTDS) is a rare genetic disorder caused by variants of the SLC6A3 gene encoding the human dopamine transporter (DAT). The disease has 2 phenotypes: classic and atypical DTDS. Classic DTDS usually… read more here.
Keywords: transporter deficiency; dtds; deficiency syndrome; dopamine transporter ... See more keywords
Widening the phenotypic spectrum – Non epileptic presentation of folate transporter deficiency
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DOI: 10.1016/j.jocn.2018.10.075
Abstract: INTRODUCTION Folate is essential for production of DNA, neurotransmitters and myelin and regulation of genetic activity. A specific transporter protein is required to transport folate from blood to CSF. Various inherited brain-specific folate transport defects… read more here.
Keywords: transporter deficiency; folate; non epileptic; folate transporter ... See more keywords
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210247119
Abstract: Significance Interpretation of missense variants in clinically important genes is a critical challenge. Loss-of-function (LOF) variants in SLC22A5 (OCTN2) cause Carnitine Transporter Deficiency (CTD), a rare but potentially lethal inborn error of metabolism. Motivated by… read more here.
Keywords: specific variant; protein specific; carnitine transporter; transporter deficiency ... See more keywords
Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.
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DOI: 10.1097/cnd.0000000000000390
Abstract: ABSTRACT We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She… read more here.
Keywords: deficiency type; riboflavin transporter; electrodiagnostic findings; transporter deficiency ... See more keywords
Ocular Biomarkers of Riboflavin Transporter Deficiency
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DOI: 10.1097/wno.0000000000001678
Abstract: Background: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 (SLC52A2-RTD). Methods: This is a… read more here.
Keywords: riboflavin supplementation; riboflavin transporter; transporter deficiency; vision ... See more keywords
Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency
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DOI: 10.3390/antiox9121252
Abstract: Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by sensorineural deafness and motor neuron degeneration. Since riboflavin plays key functions in biological oxidation-reduction reactions, energy metabolism pathways involving flavoproteins are affected in RTD.… read more here.
Keywords: transporter deficiency; motor neurons; riboflavin transporter; pluripotent stem ... See more keywords
Effects of Delivering Guanidinoacetic Acid or Its Prodrug to the Neural Tissue: Possible Relevance for Creatine Transporter Deficiency
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DOI: 10.3390/brainsci12010085
Abstract: The creatine precursor guanidinoacetate (GAA) was used as a dietary supplement in humans with no adverse events. Nevertheless, it has been suggested that GAA is epileptogenic or toxic to the nervous system. However, increased GAA… read more here.
Keywords: creatine; gaa; transporter deficiency; creatine transporter ... See more keywords