Publications by authors named "S Koelker"
Article Synopsis
- The study investigates neurodevelopmental disorders caused by pathogenic variants, focusing on individuals without epilepsy, as little is known about their development and potential treatment endpoints beyond seizure control.
- Researchers conducted a retrospective study collecting data from 71 individuals, including 44 new cases, assessing their medical histories and developmental outcomes using standardized measures.
- Findings revealed that 25% of the participants did not have epilepsy, and those without it generally had better motor function and developmental outcomes, suggesting distinct clinical features between individuals with and without a history of seizures.
A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6million births and data from the large US and European longitudinal registries to determine how common these conditions are.
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- * Research on 18 patients revealed mutations in the EPG5 gene, linking it to the syndrome's cause; this gene is crucial for a type of cellular recycling process known as autophagy.
- * Further investigation showed that individuals with EPG5 mutations struggle to clear cellular waste, highlighting how problems with autophagy may affect not just immunity but also the development of vital organs, such as the brain and heart.
Accumulation of organic acids as well as their CoA and carnitine esters in tissues and body fluids is a common finding in organic acidurias, beta-oxidation defects, Reye syndrome, and Jamaican vomiting sickness. Pathomechanistic approaches for these disorders have been often focused on the effect of accumulating organic acids on mitochondrial energy metabolism, whereas little is known about the pathophysiologic role of short- and medium-chain acyl-CoAs and acylcarnitines. Therefore, we investigated the impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on central components of mitochondrial energy metabolism, namely alpha-ketoglutarate dehydrogenase complex, pyruvate dehydrogenase complex, and single enzyme complexes I-V of respiratory chain.
View Article and Find Full Text PDFWe encountered a patient with glutaric aciduria type I (GA-I) associated with skin lesions resembling acrodermatitis enteropathica (AE). This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels of essential amino acids, particularly isoleucine, and zinc was confirmed.
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