Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8-year-old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the biochemical pathway of CAD and the preclinical and clinical studies that suggest uridine supplementation can rescue the CAD deficiency phenotypes. Our case demonstrates a relatively late-onset case of refractory epilepsy with a rapid response to treatment using the uridine pro-drug triacetyluridine (TAU), the FDA-approved treatment for hereditary orotic aciduria.
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PMID:Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review. 3324 80

Altered functional connectivity patterns play an important role in explaining autism spectrum disorder related impairments. In order to examine such connectivity, resting state functional MRI is the most commonly used technique. To date, the majority of works in this area examine a whole time series of brain activation as a discrete stationary process. This study proposes a more detailed analysis of how functional connectivity fluctuates over time and how it is used to quantify instances demonstrating overconnectivity or underconnectivity. Non-parametric surrogates test identifies the areas where underconnectivity or overconnectivity correlate with the Autism Diagnosis Observation Schedule. In addition, this study shows how the areas identified affect the subjects behaviors. Our ultimate goal is a personalized autism diagnosis and treatment CAD system, where each subject impairments are distinctly mapped so they can be addressed with targeted treatments.
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PMID:Identifying brain areas correlated with ADOS raw scores by studying altered dynamic functional connectivity patterns. 3326 Jan 9