A5084660761- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- RNA modifications and cancer
- Alcoholism and Thiamine Deficiency
- Diabetes and associated disorders
- Clinical Nutrition and Gastroenterology
- Biotin and Related Studies
- Dermatological and Skeletal Disorders
- Neurological and metabolic disorders
- Glutathione Transferases and Polymorphisms
- Childhood Cancer Survivors' Quality of Life
- Diet, Metabolism, and Disease
- Sulfur Compounds in Biology
- Electrolyte and hormonal disorders
- Biochemical Acid Research Studies
- Intestinal Malrotation and Obstruction Disorders
- Genomics and Rare Diseases
- Pharmaceutical studies and practices
- Neonatal Respiratory Health Research
- Click Chemistry and Applications
- Vestibular and auditory disorders
- Blood disorders and treatments
Children's Memorial Health Institute
2012-2024
Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants mitochondrial disorders (MD). We performed WES 113 MD suspected patients from Polish paediatric reference centre, whom routine testing failed identify a molecular defect. was using TruSeqExome enrichment, followed by variant prioritization, validation Sanger sequencing, and segregation with the disease phenotype family. Likely mutations were identified 67 (59.3 %) patients; these included...
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) is caused by biallelic variants in SERAC1 . Methods This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results Sixty‐seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age 9 years). A total 41 different identified,...
Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form mitochondrial depletion syndrome (MDS). A group 28 infants with severe progressive liver failure unknown was recruited for post mortem search deoxyguanosine (DGUOK) gene mutations. Four affected patients (14% studied group), two homozygotes, one compound heterozygote, and DGUOK mutation found on only allele, were identified. Three known pathogenic mutations in detected, c.3G>A (p.Met1Ile), c.494A>T...
and valproate liver toxicity
Abstract Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3‐methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected patients virtual absence of development. Muscular hypo‐ hypertonia, movement disorder progressive brain atrophy are frequently reported. We present foetal, peri‐ neonatal features 31 patients, which five previously unreported, using newly developed clinical severity scoring...
Barth syndrome (BTHS) is an X-linked mitochondrial defect characterised by dilated cardiomyopathy, neutropaenia and 3-methylglutaconic aciduria (3-MGCA). We report on two affected brothers with c.646G > A (p.G216R) TAZ gene mutations. The pathogenicity of the mutation, as indicated structure-based functional analyses, was further confirmed abnormal monolysocardiolipin/cardiolipin ratio in dry blood spots patients well occurrence this mutation another reported BTHS proband. In both brothers,...
Pyruvate dehydrogenase complex (PDHc) defect is a well-known cause of mitochondrial disorders (MD) with at least six responsible genes (PDHA1, PDHB, DLAT, DLD, PDHX, PDP1). The aim this work was to assess the diagnostic value biochemical methods in recognition PDHc Polish patients suspicion MD. In first step, Western blot E1α subunit performed on 86 archive muscle bioptates second Sanger PDHA1 sequencing 21 cases low expression. third 7 negative results were subjected whole-exome (WES). This...
Background The prevalence of isolated hearing loss (HL) associated with the m.3243A>G mutation is unknown. aim this study was to assess frequency and heteroplasmy level in a large group Polish patients postlingual bilateral sensorineural HL unidentified cause. Methodology/Principal Findings A molecular search undertaken archival blood DNA 1482 unrelated that had begun at ages between 5 40 years. Maternal relatives probands were subsequently investigated all carriers underwent audiological...
Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation children and adults. aim this study was analyze clinical neurological outcomes Polish patients IVA. Ten diagnosed treated Children's Memorial Health Institute were included study. diagnosis based on tandem MS (increased level C5...
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...
Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as autosomal recessive trait. Due to the, biotinidase deficiency, not recycled. Individuals with BTD usually exhibit neurological and cutaneous abnormalities unless treated biotin. Supplementation may either ameliorate or if early introduced even prevent symptoms when presymptomatically.
The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherited metabolic disorder with the phenotype of early infantile DEE. In addition fact that biochemical biomarkers PDE-ALDH7A1, including α-aminoadipic semialdehyde dehydrogenase, pipecolic acid (PA), Δ1-piperideine-6-carboxylate, 6-oxopipecolate...
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Buda P, Piekutowska-Abramczuk D, Karkucińska-Więckowska A, et al. “Drop attacks” as first clinical symptoms in a child carrying MTTK m.8344A>G mutation. Folia Neuropathologica. 2013;51(4):347-354. doi:10.5114/fn.2013.39726. APA Buda, P., Piekutowska-Abramczuk, D., Karkucińska-Więckowska, A., Jurkiewicz, E., Chełstowska, S., & Pajdowska, M. (2013). Neuropathologica, 51(4), 347-354....
Abstract Aim Children with ultra‐short bowel syndrome ( USBS ) have not been extensively studied to date because the condition is rare. The aim of study was assess nutritional status children receiving home parenteral nutrition, using citrulline serum concentration and cholestasis. Methods We 17 patients , a median age 6.6 years duration nutrition years. carried out at Children's Memorial Health Institute, Warsaw, from January 2014 2015. Results standard deviation score SDS −1.2 for body...
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Pronicki M, Piekutowska-Abramczuk D, Jurkiewicz E, et al. Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to biotin-thiamine-responsive basal ganglia disease. Folia Neuropathologica. 2017;55(2):146-153. doi:10.5114/fn.2017.68581. APA Pronicki, M., Piekutowska-Abramczuk, D., Jurkiewicz, E., Rokicki, Ciara, & Trubicka, J. (2017). Neuropathologica, 55(2), 146-153....
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...
AMA Pohorecka M, Biernacki Jakubowska-Winecka A, et al. Emotional and behavioural functioning in children with tyrosinaemia type 1. Pediatric Endocrinology Diabetes Metabolism. 2024;30(1):8-13. doi:10.5114/pedm.2024.138666. APA Pohorecka, M., Biernacki, Jakubowska-Winecka, A., Leszczynska-Iwanicka, K., Rokicki, D., & Pokora, P. (2024). Metabolism, 30(1), 8-13. https://doi.org/10.5114/pedm.2024.138666 Chicago Monika, Marcin Anna Kinga Dariusz Paulina Barbara Perkowska 2024. "Emotional 1"....
Congenital disorders of glycosylation (CDG) are a growing, heterogeneous group genetic caused by defect in the glycoprotein synthesis. The first and still widely used method for routine CDG screening was isoelectric focusing (IEF) serum transferrin. Dried blood spot (DBS) testing is commonly newborn procedures to detect inborn errors metabolism. aim this study demonstrate reliability IEF DBS testing. can help postmortem diagnosis when other material unavailable. patterns concentrations...