Methionine adenosyltransferase I/III deficiency is an inborn error of metabolism due to mutations in the MAT1A gene. It is the most common cause of hypermethioninemia in newborn screening. Heterozygotes are often asymptomatic. In contrast, homozygous or compound heterozygous individuals can develop severe neurological symptoms. Less than 70 cases with biallelic variants have been reported worldwide. A methionine-restricted diet is recommended if methionine levels are above 500–600 µmol/L. In this study, we report on a female patient identified with elevated methionine concentrations in a pilot newborn screening program. The patient carries a previously described variant c.1132G>A (p.Gly378Ser) in homozygosity. It is located at the C-terminus of MAT1A. In silico analysis suggests impaired protein stability by β-turn disruption. On a methionine-restricted diet, her serum methionine concentration ranged between 49–605 µmol/L (median 358 µmol/L). Her clinical course was characterized by early-onset muscular hypotonia, mild developmental delay, delayed myelination and mild periventricular diffusion interference in MRI. At 21 months, the girl showed age-appropriate neurological development, but progressive diffusion disturbances in MRI. Little is known about the long-term outcome of this disorder and the necessity of treatment. Our case demonstrates that neurological symptoms can be transient and even patients with initial neurologic manifestations can show normal development under dietary management.
Studying at university places high demands on the control and regulation of one's own learning behavior. In order to support students’ learning, we developed and used a webtool containing elements such as regular performance testing as well as feedback on test performance and self-evaluations. In this report, we first introduce core elements of the applied webtool. Then, we present findings on student's use of this tool. Results show substantial variability in willingness and frequency of tool usage between students. Students with better final school exam grades and students who intended to engage regularly in course postprocessing were more willing to use such a tool. The findings are discussed against the background of regulation requirements in open learning environments and implications on better implementation are derived.
Students’ beliefs about errors have become a field of interest within higher education research. Studies show that these are associated with students’ GPA as well as their learning strategies. Whether students’ beliefs about errors are associated with their willingness to engage in learning situations in which making errors is likely, is still an open question. To address this research gap, we measured error beliefs on three dimensions (affect, cognition, and behavior) on a sample of N = 159 university students. Applying stepwise linear regression and using academic risk taking as dependent variable for learning behavior that is characterized by a risk of making errors, this article shows that beliefs about errors influence students’ willingness to engage in error-prone situations within seminar settings. Students who do not show negative affect after making errors tend to take more academic risks within seminar settings, and students who are behaviorally apt to work with their errors take less academic risks. In contrast, beliefs about errors do not seem to relate to students’ engagement in academic risks in front of their peers. These results contribute to a deeper understanding of the role of students’ beliefs about their errors for educational dynamics and processes. They also offer implications for practitioners such as promoting strategies for emotional regulation following errors.
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