A5061896629- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Diet and metabolism studies
- Infant Nutrition and Health
- Oral and gingival health research
- Blood disorders and treatments
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- Neonatal Respiratory Health Research
- Acute Myeloid Leukemia Research
- Clinical Nutrition and Gastroenterology
- PI3K/AKT/mTOR signaling in cancer
- Alcoholism and Thiamine Deficiency
- Biochemical and Molecular Research
- ATP Synthase and ATPases Research
- Galectins and Cancer Biology
- Genetic Syndromes and Imprinting
- Glycosylation and Glycoproteins Research
- Diagnosis and treatment of tuberculosis
- Fibroblast Growth Factor Research
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- BRCA gene mutations in cancer
- Immunodeficiency and Autoimmune Disorders
Children's Memorial Health Institute
2008-2024
Maastricht University
2019
Instytut Matki i Dziecka
2008-2016
Glycogen storage disease type Ib (GSD Ib, biallelic variants in SLC37A4) is a rare disorder of glycogen metabolism complicated by neutropenia/neutrophil dysfunction. Since 2019, the SGLT2-inhibitor empagliflozin has provided mechanism-based treatment option for symptoms caused dysfunction (e.g. mucosal lesions, inflammatory bowel disease). Because rarity GSD published evidence on safety and efficacy still limited does not allow to develop evidence-based guidelines. Here, an international...
Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by biallelic mutations in the
Abstract Objectives Mitochondrial methionyl‐ tRNA formyltransferase ( MTFMT ) is required for the initiation of translation and elongation mitochondrial protein synthesis . Pathogenic variants in have been associated with Leigh syndrome LS multiple respiratory chain deficiencies. We sought to elucidate spectrum clinical, neuroradiological molecular genetic findings patients bi‐allelic pathogenic Methods Retrospective cohort study combining new cases previously published cases. Results...
Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from abnormal mitochondrial function. Currently, there is no causal treatment for MDs. The aim the study was to assess effectiveness and safety ketogenic diet (KD) in patients with MD analyse selected biochemical clinical parameters evaluating KD A total 42 paediatric were assigned four groups: 1—patients whom started (n = 11); 2—patients remaining on an ordinary 10); 3—patients without initiated 10), 4—patients...
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, dysphagia, dysarthria, and seizures), which respond very well to early treatment thiamine biotin.A retrospective review characteristics, magnetic resonance imaging molecular findings 3 patients BTBGD.The first all occurred at 12-24 months age they had...
Abstract Neutropenia and neutrophil dysfunction in glycogen storage disease type 1b (GSD1b) are caused by the accumulation of 1,5-anhydroglucitol-6-phosphate granulocytes. The antidiabetic drug empagliflozin reduces concentration 1,5-anhydroglucitol (1,5-AG), thus restoring counts functions, leading to promising results previous case reports. Here, we present a comprehensive analysis function 7 patients with GSD1b 11 healthy donors, aiming evaluate immediate (after 3 months) long-term 12...
Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by a deficiency of microsomal glucose-6-phosphate (G6P) transport protein across the endoplasmic reticulum membrane. Patients with GSD have hypoglycemia episodes, lactate acidosis, hypertriglyceridemia, hypercholesterolemia, hyperuricemia, neutropenia and in imaging studies hepatomegaly and/or nephromegaly. The primary goals treatment are to maintain proper blood glucose levels increase number properly...
Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation methylmalonic acid in body fluids. One the causes disease aciduria, cblA type (cblA - MMA), conditioned by mutation MMAA gene, which essential for proper functioning cofactor methylmalonyl-CoA mutase. The symptoms disease, depending on cause, may manifest themselves at different ages. Most patients are sensitive high doses hydroxycobalamin, associated with better prognosis.The purpose study was...
This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death infancy. Molecular testing children confirmed presence an m.3303C>T point mutation mitochondrial DNA
Background: Glycogen storage diseases (GSDs), known as glycogenoses, belong to inborn metabolic defects in the glycogen metabolism pathway. Several types of GSDs are distinguished, including Ia, Ib, III, VI, and IX. manifest excessive deposition liver muscles, resulting dysfunction these organs. Therefore, treatment choice is multitherapy that, due dietary restrictions, may lead nutritional deficiencies organ complications. This study aims assess anthropometric, body composition, skeletal...
Abstract BackgroundMitochondrial diseases (MDs) are heterogeneous group of disorders caused by inborn defects in the mitochondrial respiratory chain (MRC) and malfunctions cellular oxidative phosphorylation (OXPHOS). MDs mutations both nuclear DNA. Leigh syndrome (LS) is a neurodegenerative MD with specific clinical neuroradiological features. There broad spectrum MDs, including organ-specific multiorgan presentations symptoms occurring at any age. High energy requiring organs most...
N-glycosylation defects-isolated or mixed with other glycosylation defects-are the most frequent congenital disorders of and present mostly in childhood, a specific combination non-specific phenotypic features. The diagnosis, however, is often delayed. aim this study to describe perinatal phenotype N-glycosylation. We an analysis symptoms group 24 one-center Polish patients mixed. paper expands CDGs shows that some distinctive combinations period should raise suspicion differential diagnosis.
stReszczenie Drgawki pirydoksynozależne (pyridoxine-dependent epilepsy -PDE) to rzadko występująca encefalopatia padaczkowa uwarunkowana autosomalnie recesywnie.Charakteryzuje się uporczywymi, nawracającymi drgawkami u noworodków i niemowląt, nieodpowiadającymi na standardowe leczenie przeciwpadaczkowe, a ustępującymi przy podaży terapeutycznych dawek witaminy B 6 (pirydoksyny).Najczęstszą przyczyną PDE jest deficyt ALDH7A1 (antykwityny) -enzymu biorącego udział w przemianie lizyny, który...
Individuals with inherited hyperammonemias often present developmental and intellectual deficiencies which are likely to be exaggerated by hyperammonemia episodes in long-term outcomes. In order find a new, systemic marker common the course of congenital hyperammonemias, we decided measure plasma level S100 calcium-binding protein B (S100B), is associated cerebral impairment. Further, analyzed three mechanistically diverged but linked oxidative-nitrosative stress biochemical parameters:...
The fibroblast growth factor 21 (FGF21) is a new biomarker of mitochondrial diseases (MD). FGF21 concentration may be used to define the severity disease.The study objective was verify if in paediatric patients with MD correlated disease and stage assess correlation between levels genetic background MD.The subjects determined on basis International Paediatric Mitochondrial Disease Scale (IPMDS) concentrations FGF21, lactic pyruvic acids, alanine creatine kinase serum were assessed those...