Browsing Research Output by Author "11998938 - Dercksen, Marli"
Now showing items 1-9 of 9
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A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue
Dercksen, Marli; Duran, Marinus; Ijlst, Lodewijk; Kulik, Wim; Ruiter, Jos P.N. (Elsevier, 2016)Background N-acetylglutamate synthase (NAGS) plays a key role in the removal of ammonia via the urea cycle by catalyzing the synthesis of N-acetylglutamate (NAG), the obligatory cofactor in the carbamyl phosphate synthetase ... -
ALG6-CDG in South Africa: genotype-phenotype description of five novel patients
Dercksen, M.; Mienie, L.J.; Vorster, B.C.; Crutchley, A.C.; Honey, E.M. (Springer, 2012)ALG6-CDG (formerly named CDG-Ic) (phenotype OMIM 603147, genotype OMIM 604566), is caused by defective endoplasmic reticulum a-1,3-glucosyltransferase (E.C 2.4.1.267) in the N-glycan assembly pathway (Gr€unewald et al. ... -
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Morava, Eva; Dercksen, Marli; Tiemes, Vera; Thiel, Christian; Seta, Nathalie (Springer, 2016)Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, ... -
Clinical variability of isovaleric acidemia in a genetically homogeneous population
Dercksen, M.; Mienie, L.J.; Reinecke, C.J.; Duran, M.; Ijlst, L.; Wanders, R.J.A. (Springer, 2012)Isovaleric acidemia (IVA) is one of the most common organic acidemias found in South Africa. Since 1983, a significant number of IVA cases have been identified in approximately 20,000 Caucasian patients screened for metabolic ... -
Concurrent class analysis identifies discriminatory variables from metabolomics data on isovaleric acidemia
Koekemoer, Gerhard; Dercksen, Marli; Allison, James; Santana, Leonard; Reinecke, Carolus J. (Springer, 2012)Metabolomics data are typically complex and high dimensional. Multivariate dimension-reducing techniques have thus been developed for analysing metabolomics data to disclose underlying relationships, with principal component ... -
Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters
Dercksen, M.; Mienie, L.J.; Van der Westhuizen, F.H.; Ijlst, L.; Duran, M. (Elsevier, 2014)Hyperammonemia is a frequent finding in various organic acidemias. One possible mechanism involves the inhibition of the enzyme N-acetylglutamate synthase (NAGS), by short-chain acyl-CoAs which accumulate due to defective ... -
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency
Van der Westhuizen, Francois H.; Louw, Roan; Schoonen, Maryke; Jonck, Lindi-Maryn; Dercksen, Marli (Elsevier, 2018)Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including ... -
Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach
Dercksen, Marli; Koekemoer, Gerhard; Mienie, Lodewyk J.; Reinecke, Carolus J.; Duran, Marinus (Springer, 2013)Isovaleric acidemia (IVA, MIM 248600) can be a severe and potentially life-threatening disease in affected neonates, but with a positive prognosis on treatment for some phenotypes. This study presents the first ... -
Polyunsaturated fatty acid status in treated isovaleric acidemia patients
Dercksen, M.; Mienie, L.J.; Reinecke, C.J.; Kulik, W.; Wanders, R.J.A. (Springer Nature, 2016)BACKGROUND/OBJECTIVES: Nutritional deficiencies are frequently observed when treating patients with inborn errors of metabolism due to an unbalanced diet. Thus far, patients with isovaleric acidemia (IVA) who adhere to a ...