David C Kasper

David C Kasper
ARCHIMEDlife Vienna/ Medical University of Vienna · Clinical Institute of Laboratory Medicine

Assoc.-Prof. Dipl.-Ing. DDr.

About

119
Publications
16,316
Reads
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2,566
Citations
Additional affiliations
May 2006 - present
Medical University of Vienna
January 2004 - June 2006
TU Wien
Position
  • PhD Student

Publications

Publications (119)
Article
Full-text available
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly summarized all published GALNS gene variants, thus updating the previous mutation review by Morrone, et al. 2014. In additio...
Article
Metachromatic leukodystrophy (MLD) is a rare, fatal autosomal-recessive genetic disorder caused by insufficient activity of the enzyme Arylsulfatase A (ARSA) that results in intra-lysosomal accumulation of the ARSA substrate galactosylceramide I3-sulfate (sulfatide), inevitably leading to progressive demyelination and neurodegeneration in the CNS a...
Article
Full-text available
Background Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A gene ( GLA ) leading to deficiency of α-galactosidase A and ultimately in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3) and its deacylated derivative globotriaosylsphingosine (Lyso-Gb3). The ai...
Article
Full-text available
Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase (GAA, EC 3.2.1.20), leading to generalized accumulation of lysosomal glycogen especially in the heart, skeletal, and smooth muscle, and the nervous system. It is generally classified based on the age of onset as infantile (IOPD)...
Article
Full-text available
We report on the unexpected finding that click modification of iduronyl azides results in a conformational flip of the pyranose ring, which led to the development of a new strategy for the design of superior enzyme substrates for the diagnostic assaying of iduronate-2-sulfatase (I2S), a lysosomal enzyme related to Hunter syndrome. Synthetic substra...
Preprint
We report on the unexpected finding that click modification of iduronyl azides results in a conformational flip of the pyranose ring, which led to the development of a new strategy for the design of superior enzyme substrates for the diagnostic assaying of iduronate-2-sulfatase (I2S), a lysosomal enzyme related to Hunter syndrome. Synthetic substra...
Article
Individuals affected by alpha-Mannosidosis suffer from similar clinical symptoms such as respiratory infections, skeletal changes as patients with mucopolysaccharidoses (MPS). α-Mannosidosis is considered as an ultra-rare disorders and also diagnostic testing is often limited. With the availability of novel therapies and easy-to-access diagnostic t...
Article
A fast and reliable method for the determination of hemoglobinopathies and thalassemias by high-resolution accurate mass spectrometry (HRAM/MS) is presented. The established method was verified in a prospective clinical study (HRAM/MS vs. high-pressure liquid chromatography [HPLC]) of 5335 de-identified newborn samples from the Hamburg area. The an...
Article
Full-text available
Abstract Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations, offering a possible earlier diagnosis. We studied the prevalence of FD in 188 patients
Article
11,948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of Lyso‐GL‐3 (lyso‐Gb3) biomarker in Dried Blood Spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values f...
Article
Background: Ureaplasma species (spp) are the bacteria most often isolated from the amniotic cavity of women with preterm labor or preterm premature rupture of membranes; thus, the link between intrauterine Ureaplasma spp infection and adverse pregnancy outcome clearly is established. However, because vaginal Ureaplasma spp colonization is very com...
Article
Asparagine levels in cerebrospinal fluid and serum asparaginase activity were monitored in children with acute lymphoblastic leukemia treated with pegylated-asparaginase. The drug was given intravenously at a dose of 2,500 IU/m2 on days 12 and 26. Serum and cerebrospinal fluid samples obtained on days 33 and 45 were analyzed centrally. Since physio...
Article
Full-text available
Readily available peritoneal dialysis (PD) effluents from PD patients in the course of renal replacement therapy are a potentially rich source for molecular markers for predicting clinical outcome, monitoring the therapy, and therapeutic interventions. The complex clinical phenotype of PD patients might be reflected in the PD effluent metabolome. M...
Article
Full-text available
Synthetic substrates play a pivotal role in the development of enzyme assays for medical diagnostics. However, the preparation of these chemical tools often requires multistep synthetic procedures complicating structural optimization and limiting versatility. In particular, substrates for enzyme assays based on tandem mass spectrometry need to be d...
Article
Background: Late-onset glycogen storage disease type II is associated with variable muscle phenotypes. Epidemiological data suggest that its prevalence is lower in Belgium than in bordering countries like The Netherlands. Objective: We investigated whether such low estimated prevalence is due to missed diagnoses. Methods: We screened 100 patie...
Article
Full-text available
Introduction Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of GLA gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Plasma Lyso-Gb3 levels serve as a disease seve...
Article
Full-text available
Introduction Diagnosis of neonatal sepsis remains a major challenge in neonatology. Most molecular-based methods are not customized for neonatal requirements. The aim of the present study was to assess the diagnostic accuracy of a modified multiplex PCR protocol for the detection of neonatal sepsis using small blood volumes. Methods 212 episodes o...
Article
Background: While there is a proven association of upper genital tract Ureaplasma infection during pregnancy with adverse pregnancy outcome, the effect of vaginal Ureaplasma colonization on preterm delivery has been controversially debated. Objectives: We hypothesized that women with isolation of vaginal U. parvum but not U. urealyticum are at i...
Article
Full-text available
Background Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss, blindness, and death. Austria, a country with moderate seroprevalence, instituted mandatory prenata...
Data
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Article
Full-text available
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes. In a large cohort of FD patients, we aimed to...
Article
Full-text available
Background: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and s...
Article
Full-text available
Background Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector...
Article
Full-text available
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the α-galactosidase A gene (GLA) that result in absent or markedly reduce α-galactosidase A (α-GalA) enzymatic activity. As a result, the major glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (LysoGb3) accumulate...
Article
Health managment of refugee children and adolescents is a huge challenge. Our guidelines are intended to give doctors a practical guide for diagnosis and management. These guidelines are under discussion with public authorities.
Article
Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening. Methods: We reevaluated data from our newborn screening programme fo...
Article
Full-text available
High consanguinity rates, poor access to accurate diagnostic tests, and costly therapies are the main causes of increased burden of lysosomal storage disorders (LSDs) in developing countries. Therefore, there is a major unmet need for accurate and economical diagnostic tests to facilitate diagnosis and consideration of therapies before irreversible...
Article
Die medizinische Versorgung von Flüchtlingskindern und -jugendlichen stellt eine große Herausforderung dar. Die vorliegenden Empfehlungen sollen eine praktische Hilfe bei der Diagnostik und Therapie für die involvierten ÄrztInnen darstellen, sind aber teilweise noch Gegenstand von Diskussion mit den Behörden.
Article
Bacterial involvement is believed to play a pivotal role in the development and disease outcome of NEC. However, whether a bloodstream infection (BSI) predisposes to NEC (e.g. by activating the pro-inflammatory response) or result from the loss of gut wall integrity during NEC development is a longstanding question. We hypothesize that the occurren...
Article
Intestinal fatty acid-binding protein (I-FABP) is considered as a specific marker for enterocyte damage in necrotizing enterocolitis (NEC). The purpose of this study was to evaluate the association of plasma and urinary I-FABP levels with the extent of macroscopic intestinal necrosis in surgical NEC. We combined data from prospective trials from tw...
Article
Prenatal diagnosis of congenital toxoplasmosis (CT) influences therapeutical management in pregnant women and their offspring. In Austria, a nationwide serological healthcare program to identify potential maternal toxoplasma infections during pregnancy exists. We assessed the clinical use of amniocentesis for toxoplasma-specific polymerase chain re...
Article
Full-text available
Purpose: Streamline tedious and multiple steps of manual calculations; remove transcription errors in post-analytical phase of testing processing. Methods: Use a new software to automatically process raw data files generated from flow injection tandem MS analysis of amino acids and acylcarnitines in dried blood spot cards. Results: A total of 131...
Conference Paper
Full-text available
Purpose: Streamline tedious and multiple steps of manual calculations; remove transcription errors in post-analytical phase of testing processing. Methods: Use a new software to automatically process raw data files generated by flow injection tandem MS analysis of amino acids and acylcarnitines from dried blood spot cards. Results: A total of 1...
Article
Background: We aimed to determine the incidence of primary gestational infections with Toxoplasma gondii and congenital toxoplasmosis in Austria, a country with a nationwide prenatal serological screening program since 1974. Methods: We analyzed retrospective data from the Austrian Toxoplasmosis Register of pregnant women with Toxoplasma infecti...
Article
Background: Intestinal ischemia plays a major role in the pathogenesis of necrotizing enterocolitis (NEC). The diagnosis of intestinal ischemia would be highly desirable, as it is impossible to achieve with the current diagnostic regimes. Preliminary data from an animal NEC model indicate a possible correlation between the plasma activity of the l...
Conference Paper
Full-text available
The use of Tandem MS for inborn error metabolism research started in 1990. With advancement of Tandem MS technology, more compounds can be detected and quantified using a simple sample introduction method such as flow injection with isotopic internal standards. A major challenge is to process a large quantity of generated data efficiently without t...
Conference Paper
Full-text available
Purpose: Streamline tedious and multiple steps of manual calculations; remove transcription errors in post-analytical phase of testing processing. Methods: Use a new software to automatically process raw data files generated from flow injection tandem MS analysis of amino acids and acylcarnitines in dried blood spot cards. Results: A total of 131...
Article
New strategies of rapid high-throughput analysis of street drugs without time-consuming sample preparations are necessary due to the massive variety of illicit substances available on the market. We used matrix-assisted laser desorption/ionization (MALDI) high-resolution mass spectrometry (HRMS) to identify substances in 74 drug samples obtained fr...
Article
Zusammenfassung Die konnatale Toxoplasmose kommt weltweit vor, trotzdem existiert kein einheitliches Management bezüglich Diagnostik und Therapie. In Österreich wird als Präventionsstrategie das serologische Screening in der Schwangerschaft seit vier Jahrzehnten erfolgreich praktiziert. Seit Einführung des Mutter-Kind-Pass-Programmes wird die serol...
Article
Abstract In 1966, the National Austrian Newborn Screening Program for inherited metabolic and endocrine disorders was initiated. In the last five decades, around four million babies were screened and in more than 2600 babies, various inborn errors of metabolism and endocrine disorders were detected. This health-preventive program was continuously e...
Article
Full-text available
Diagnosis of bacterial sepsis in preterm neonates can be difficult when using serum markers that rely on physiological changes because these changes may not necessarily be the result of bacterial infections alone. This retrospective investigation explores the potential use of the DNA methylation pattern of CpG sites in the promoter region of the ca...
Article
Full-text available
The vast majority of diabetes patients suffer from type II diabetes. There are several theories for potential causes of its development, the most favored being the “exhaustion” of β-cells by chronic excess caloric intake combined with inactivity leading to obesity, diabetes, and cardiovascular disease (1). Viral infection could be a potential cause...
Article
Screening for inborn errors of metabolism using mass spectrometry is part of nationwide newborn screening programs and involves the detection of disease relevant (acyl-)carnitines and organic acids from dried blood spots. Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry (MALDI-MS) is a well-established tool for proteomics approaches. I...