A5040168232- Metabolism and Genetic Disorders
- Metabolomics and Mass Spectrometry Studies
- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- RNA modifications and cancer
- Diet and metabolism studies
- Caveolin-1 and cellular processes
- RNA Research and Splicing
- Genomics and Rare Diseases
- Congenital heart defects research
- Blood groups and transfusion
- Amino Acid Enzymes and Metabolism
- Cancer, Hypoxia, and Metabolism
- Peroxisome Proliferator-Activated Receptors
- ATP Synthase and ATPases Research
- Diabetes and associated disorders
Maastricht University Medical Centre
2018-2025
Maastricht University
2015-2022
Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) diet has diminished these problems, but recent data indicate that HT1 patients have neurocognitive problems. However, neuropsychological profile of unknown. Therefore, study aimed investigate...
The use of di-ethyl-hexyl-phthalate (DEHP) in medical devices will be banned the European Union from 1 July 2030, onwards. It is therefore important to evaluate performance non-DEHP blood collection system alternatives. Previously, we reported that red cell concentrates (RCCs) phosphate-adenine-glucose-guanosine-saline-mannitol (PAGGSM) stored containers did not result an increased transfusion reaction rate (TRR) as compared with saline-adenine-glucose-mannitol (SAGM)/DEHP-stored RCC....
Abstract Since organic acid analysis in urine with gaschromatography‐mass spectrometry (GC‐MS) is a time‐consuming technique, we developed new liquid chromatography‐quadrupole time‐of‐flight mass (LC‐QTOF/MS) method to replace the classical for diagnosis of inborn errors metabolism (IEM). Sample preparation simple and experimental time short. Targeted extraction automatic calculation z‐scores generated profiles characteristic IEMs our panel consisting 71 biomarkers defects amino acids,...
In a 28-year-old male with mild mitochondrial myopathy manifesting as exercise intolerance and early signs of cardiomyopathy without muscle weakness or ophthalmoplegia, we identified two novel mutations in the SLC25A4 gene: c.707G>C exon 3 (p.(R236P)) c.116_137del 2 (p.(Q39Lfs*14)). Serum lactate levels at rest were elevated (12.7 mM). Both patient's father brother heterozygous carriers mutation asymptomatic. The second causes 22 bp deletion leading to frame shift likely giving rise...
The current diagnostic work-up of inborn errors metabolism (IEM) is rapidly moving toward integrative analytical approaches. We aimed to develop an innovative, targeted urine metabolomics (TUM) screening procedure accelerate the diagnosis patients with IEM. Urinary samples, spiked three stable isotope-labeled internal standards, were analyzed for 258 metabolites ultra-high performance liquid chromatography-quadrupole time-of-flight mass spectrometry (UHPLC-QTOF-MS) configuration run in...
Abstract Patients diagnosed with pseudohypoparathyroidism type Ia (PHP Ia) suffer from hormonal resistance and abnormal postural features, in a condition classified as Albright hereditary osteodystrophy (AHO) syndrome. This syndrome is linked to maternally inherited mutation the GNAS complex locus, encoding for GTPase subunit Gsα. Here, we investigated how platelet phenotype omics analysis can assist often difficult diagnosis. By coupling IP receptor, Gsα induces inhibition via adenylyl...
Abstract Background Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability plasma and dried blood spot (DBS) Phe results. In this study, we made an inventory differences in (pre‐)analytical methodology used determination across Dutch laboratories, compared DBS Methods Through online questionnaire, assessed procedures seven metabolic laboratories. To...
Abstract Hyperprolinemia type II (HPII) is an inborn error of metabolism due to genetic variants in ALDH4A1 , leading a deficiency Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase. This leads accumulation toxic levels P5C, intermediate proline catabolism. The accumulating P5C spontaneously reacts with, and inactivates, pyridoxal 5’-phosphate, crucial cofactor for many enzymatic processes, which thought be the pathophysiological mechanism HPII. Here, we describe use combination LC-QTOF...