Genomes and Genes
Affiliation: The Children's Memorial Health Institute
- Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG geneEwa Pronicka
Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute Warsaw, Poland
Med Sci Monit 17:CR203-9. 2011..The diagnostic triad of AHS is: resistant epilepsy, liver impairment triggered by sodium valproate (VA), and mitochondrial DNA depletion...
- Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failureEwa Pronicka
Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute CMHI, Aleja Dzieci Polskich 20, 04 730, Warsaw, Poland
J Appl Genet 52:61-6. 2011....
- [Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background]Ewa Pronicka
Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii, Instytut Pomnik Centrum Zdrowia Dziecka, Warszawa
Postepy Biochem 54:161-8. 2008..Further research directions to improve our understanding of mitochondrial pathologies in children are suggested...
- Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemiaEwa Pronicka
Department of Metabolic Diseases, Children s Memorial Health Institute, Warsaw 04 730, Poland
Pediatr Res 62:101-5. 2007..Persistence of some abnormalities in HFI on treatment may be caused by trace amounts of fructose ingestion and/or a deficient diet. Regular %CDT measurements are suggested for HFI treatment monitoring...
- Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria)Agnieszka Karkucińska-Więckowska
Department of Pathology, Children s Memorial Health Institute, Warsaw, Poland
Folia Neuropathol 49:56-63. 2011....
- High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patientsDorota Piekutowska-Abramczuk
Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
Eur J Paediatr Neurol 13:146-53. 2009..845_846delCT mutation dominance allows one to start the differential diagnosis of LS in each patient of Polish (and probably Slavonic) origin from the direct search for c.845_846delCT SURF1 mutation...
- Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screeningJolanta Sykut-Cegielska
Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute, Warsaw, Poland
J Inherit Metab Dis 34:185-95. 2011..3) The nationwide selective screening appeared efficient in LCHADD detection in the country. 4) Transient mild hyperphenylalaninaemia may occur in LCHAD-deficient newborns...
- A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in PolandDorota Piekutowska-Abramczuk
Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730, Warsaw, Poland
J Inherit Metab Dis 33:373-7. 2010..Our data allow us to suggest a probable Kashubian origin of the prevalent c.1528G>C mutation. ..
- Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disordersMagdalena Lebiedzinska
Nencki Institute of Experimental Biology, Warsaw, Poland
Biochim Biophys Acta 1797:952-60. 2010..This suggest that SOD2 is under control of the Ser36 phosphorylation status of p66Shc protein. As a consequence, an intracellular oxidative stress and accumulation of damages caused by oxygen free radicals are observed in the cells...
- Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR geneJolanta Kubalska
Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warszawa, Poland
J Appl Genet 49:109-13. 2008..Multicenter analysis of such persons would finally determine if the early lipid-lowering procedures can significantly reduce the risk of premature cardiovascular disease in homozygous FH...
- MRI of a family with leukoencephalypathy with vanishing white matterElzbieta Jurkiewicz
Department of Diagnostic Imaging, The Children s Memorial Health Institute, Warsaw, Poland
Pediatr Radiol 35:1027-30. 2005..The MRI showed symmetrical diffuse abnormalities of cerebral white matter with hypointensity on FLAIR images. The diagnosis of leukoencephalopathy with VWM was made on the basis of genetic analysis...
- Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation)Maciej Pronicki
Department of Pathology, Children s Memorial Health Institute, Warsaw, Poland
Med Sci Monit 8:CR767-73. 2002..MELAS (mitochondrial myopathy, lactic acidosis and stroke-like episodes) is one of the most common mitochondrial encephalomyopathies...
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiencyAgnieszka Jurecka
Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
Mol Genet Metab 94:435-42. 2008..A search for this disorder should be included in the screening program of all infants with unexplained neonatal seizures, severe infantile epileptic encephalopathy, developmental delay, hypotonia, and/or autistic features...
- False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sitesAnna Weglewska-Jurkiewicz
Department of Molecular Biology, University of Gdansk, Kładki 24, 80 822 Gdansk, Poland
Diagn Mol Pathol 16:116-20. 2007....
- Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiencyMarek Böhm
Department of Pediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic
Pediatr Res 59:21-6. 2006....
- Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutationsPetr Pecina
Institute of Physiology and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, 142 20 Prague, Czech Republic
Am J Physiol Cell Physiol 287:C1384-8. 2004..These results suggest that at physiologically low intracellular PO2, the depressed oxygen affinity may lead in vivo to limitations of respiration, resulting in impaired energy provision in Leigh syndrome patients...
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionPetr Vyletal
Center for Applied Genomics, Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
Hum Mutat 28:255-64. 2007..833C; -] chromosomes may have originated by recurrent gene conversion employing the common nonpathogenic c.[833C; 844_845ins68] chromosomes as templates...
- Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish populationJakub Gruchota
Department of Forensic Medicine, Medical University of Warsaw, Poland
Mol Genet Metab 87:376-8. 2006..448 G > C (p.A150P, 67% of chromosomes) was screened for in a group of 1049 randomly selected unrelated individuals. Eight (1:131) carriers were found allowing to estimate the HFI prevalence in Poland as 1:31,000...
- [MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes]Hanna Mierzewska
Zakładu Genetyki Instytutu Psychiatrii i Neurologii, Warszawa
Neurol Neurochir Pol 36:457-70. 2002..Although there is no specific therapy for mitochondrial diseases to date, coenzyme Q and various vitamins as well as moderate degree exercise might be recommended...