A5020208914- Metabolism and Genetic Disorders
- Williams Syndrome Research
- Cholesterol and Lipid Metabolism
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Peroxisome Proliferator-Activated Receptors
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Glycosylation and Glycoproteins Research
- Parathyroid Disorders and Treatments
- Biochemical and Molecular Research
- Diet and metabolism studies
- Alkaline Phosphatase Research Studies
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Peptidase Inhibition and Analysis
- Mechanical stress and fatigue analysis
- Biomedical Research and Pathophysiology
- RNA regulation and disease
- Lipid metabolism and disorders
- Immunodeficiency and Autoimmune Disorders
- Mitochondrial Function and Pathology
- Nuclear Receptors and Signaling
- Growth Hormone and Insulin-like Growth Factors
Comenius University Bratislava
2011-2023
National Institute of Cardiovascular Diseases
2021
Vysoká Škola Zdravotníctva a Sociálnej Práce sv. Alžbety
2021
Slovak Academy of Sciences
2021
Institute of Chemistry of the Slovak Academy of Sciences
2021
University Hospital Bratislava
1996-2017
Children's Clinical University Hospital
1993-2011
Uniwersytecki Szpital Dziecięcy
1993-2011
Boston Children's Hospital
1994-2009
Detská Fakultná Nemocnica s Poliklinikou
1993-1999
Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation glycine in body fluids and various neurological symptoms. NKH caused deficiency the cleavage multi-enzyme system with three specific components encoded GLDC, AMT, GCSH. We undertook first comprehensive screening for GCSH mutations 69 families (56, six, seven neonatal, infantile, late-onset type NKH, respectively). GLDC or AMT were identified 75% neonatal 83% infantile families, but not NKH. No...
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian Serbian (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). majority (71%), disease manifested infancy....
An elevated thyroid stimulating hormone (TSH) level is a frequent finding in obese children, but its association with peripheral metabolism not fully understood. We hypothesized that obesity, the changes tissues might lead to dysregulation axis. The purpose of this study was investigate TSH hormones group children as compared normal-weight controls.Serum TSH, free thyroxine (fT4) and triiodothyronine (fT3) levels were measured 101 40 controls. Serum reverse T3 (rT3) also subgroup 51 15...
Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease caused by defect in alpha-mannosyltransferase 8, encoded the ALG12 gene (22q13.33). To date, only 15 patients have been diagnosed with ALG12-CDG globally. Due to newborn Slovak patient's clinical and biochemical abnormalities, isoelectric focusing transferrin was performed observed significant hypoglycosylation typical CDG I. Furthermore, analysis neutral serum N-glycans mass spectrometry revealed...
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second single dominant mutation same gene. The abolishes ER retention signal generates weak Golgi signal. Intracellular mislocalization congenital disorder glycosylation instead disease.
AIM: Congenital disorders of glycosylation (CDG) belong to an expanding group rare genetic metabolic caused by defects in the complex chemical enzymatic process glycosylation.The study is aimed at presenting a case report premature dysmorphic newborn, clinical presentation condition, way it was diagnosed and treated, as well its comparison with known cases.RESULTS: The result glycan analysis supports assumption supposed disorder also specifi es c subtype: CDG-1, subtype ALG12-CDG...
The clinical, biochemical and genetic findings in two Slovak patients with glutaric aciduria type I (GAI) are presented.GAI is a rare autosomal recessive neuro-metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase, which involved the catabolic pathways lysine, hydroxylysine tryptophan. This enzymatic defect gives rise to elevated levels acid (GA), 3-hydroxyglutaric (3-OH-GA) glutarylcarnitine (C5DC) body fluids.Biochemical molecular-genetic tests were performed. Urinary...
Abstract Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or genes encoding enzymes involved intracellular metabolism of cobalamin. Some these may cobalamin responsive. The type cannot always assumed from clinical manifestation and responsiveness to has assessed appropriate administration, avoid unnecessary treatment. cases presented herein highlight importance genetic testing need standardisation vivo...