المؤلفون: Cortès i Saladelafont, Elisenda

المساهمون: University/Department: Universitat de Barcelona. Departament d'Obstetrícia i Ginecologia, Pediatria i Radiologia i Medicina Física

مرشدي الرسالة: García Cazorla, Àngels, Jordán García, Iolanda

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Neurotransmissors, Neurotransmisores, Neurotransmitters, Neurotransmissió, Neurotransmisión, Neural transmission, Neurobiologia del desenvolupament, Neurobiología del desarrollo, Developmental neurobiology, Metabolisme, Metabolismo, Metabolism, Ciències de la Salut

الوقت: 616.8

الوصف: La neurotransmissió és el procés funcional bàsic de comunicació neuronal, i té lloc a través de l’alliberament dels neurotransmissors a l’espai sinàptic. Els defectes clàssics monogènics dels neurotransmissors inclouen els trastorns del metabolisme, degradació i transport de les monoamines (o el seu cofactor la tetrahidrobiopterina –BH4-), el GABA, la glicina i la serina, majoritàriament. Recentment també s’inclouen altres neurotransmissors com l’acetilcolina o l’ATP, i els trastorns astrocitaris o dels gliotransmissors. Les manifestacions clíniques es troben dins de l’espectre de les sinaptopaties, i es solen caracteritzar per discapacitat intel·lectual, epilèpsia, trastorns del moviment o símptomes neuropsiquiàtrics. Poden debutar en qualsevol edat de la vida, però característicament solen ser malalties neuropediàtriques que repercuteixen en el neurodesenvolupament, i que per tant, debuten en els primers anys de la vida. El treball que es presenta en aquesta tesi fa referència a: A) els defectes monogènics clàssics dels neurotransmissors, i B) els defectes de la fisologia sinàptica. A. En el primer treball es realitza una presentació del primer grup internacional dedicat a l’estudi de les malalties dels neurotransmissors, l’International Working Group on Neurotransmitter Related Disorders (iNTD), s’actualitza quina ha estat la seva activitat aquests darrers anys i el resultat principal en forma del primer registre internacional de pacients. En el següent treball, es presenta la segona guia de pràctica clínica d’un grup de defectes dels neurotransmissors: els defectes síntesi o reciclatge de la tetrahidrobiopterina (BH4). B. Els defectes de la fisiologia sinàptica implicarien totes aquelles malalties responsables d’alterar el procés de neurotransmissió i la biodisponibilitat/homeòstasi del neurotransmissor a l’espai sinàptic. En el següent treball es proposa una nova categoria de malaltia basada en el cicle biològic de la vesícula sinàptica, centrades en el terminal presinàptic de la neurona. Inclouria defectes en la formació de novo de la vesícula sinàptica al soma neuronal, el transport, maduració, exocitosi i reciclatge. Es proposa una categorització en quatre grups fenotípics: encefalopatia epilèptica, trastorns del moviment, discapacitat intel·lectual sindròmica i no-sindròmica, i trastorns neuromusculars. A propòsit de les malalties de la vesícula sinàptica, el següent treball presenta diferents pacients amb mutació en el gen DNAJC6, que codifica per l’auxilina 1 i participa en l’endocitosi de la vesícula sinàptica. El fenotip d’aquests pacients és en forma de discapacitat intel·lectual i distonia-parkinsonisme juvenil progressiva. S’estudia el líquid cefalorraquidi i fibroblasts, i s’analitzen l’auxilina 1, la ciclina-G associada a quinasa (GAK), i diferents proteïnes sinàptiques. Es conclou que hi ha una especial vulnerabiliat de l’homeòstasi dopaminèrgica, amb un augment probablement compensatori de la GAK. El següent treball descriu una pacient amb mutació en el gen DLP1, que també implica la neurotransmissió dopaminèrgica, tot codificant una proteïna que participa de l’endocitosi de la vesícula sinàptica i la fissió mitocondrial. El darrer treball amplia els defectes de la neurotransmissió centrant-se en el GABA. Es presenta una cohort de 85 pacients amb diferents malalties neuropediàtriques, i s’analitza la fracció de GABA lliure i monoamines en líquid cefalorraquidi. Es reporta una especial vulnerabilitat de la neurotransmissió GABAèrgica en tota la cohort en fins a un 44% dels casos (davant del 20% de defectes de les monoamines), i especialment en els errors congènits del metabolisme. Finalment, els annexos presenten la feina realitzada al llarg de tots aquests anys i amb la difusió d’aquests grups de malalties a través de les reunions amb famílies i amb professionals, i de la creació d’una pàgina web. D’aquesta manera, s’aconsegueix tancar el cercle que va des del pacient, a l’estudi de la seva malaltia de base i el defecte molecular, i el retorn al pacient a través del contacte estret amb les associacions de famílies i la comunitat científica.

الوصف (مترجم): Neurotrasmission is the basic functional process devoted to neuronal communication, that takes place in the synaptic cleft. Classical neurotransmitter defects include disorders of the synthesis, metabolism or transport of monoamines (mainly dopamine and serotonin, but also adrenalin and noradrenalin), aminoacids (such as GABA and glutamate, but also serine and glycine, among others), or other molecules identified in the last decades as having a role in neurotransmission (i.e. ATP, lactate or acetylcholine). Main clinical symptoms manifest in the form of global developmental delay and intellectual disability, movement disorders, neuropsychiatric symptoms and epilepsy, all in the spectrum of synaptopathies. The current thesis encompasses: A) 2 publications related to the classical neurotransmitter defects; and B) 4 publications related to disorders of the synaptic physiology and neurotransmission (that influence the process of neurotransmission, its homeostasis and the biodisponibility of the neurotransmitter in the synaptic cleft, not directly related to synthesis, transport or metabolism defects), all of them focused in the presynaptic terminal. A. The former include: 1) the first publication of the International Working Group for Neurotransmitter Related Disorders (iNTD: http://intd-online.orgTest/) and the initiation of the international registry for patients with neurotransmitter defects, as well as 2) the first clinical guidelines related to tetrahydrobiopterin synthesis and regeneration disorders. B. The latter include: 1) a proposal for a new category of presynaptic disorder, focused on the synaptic vesicle cycle; 2) a cohort of patients carrying DNAJC6 mutations, that encode the protein auxilin 1 (implicated in the endocytosis of the synaptic vesicle), and the secondary dopaminergic disruption in these patients, studied in cerebrospinal fluid (CSF) and fibroblasts; 3) a patient with DLP1 mutation, that encodes dynamin-like protein 1, implicated in the mitochondrial and peroxisomal fission, as well as the endocytosis of the synaptic vesicle; and finally, 4) a cohort of 85 patients with different neuropediatric disorders, in whom free GABA levels were studied in CSF, revealing a special vulnerability of GABA levels compared to monoamine levels, especially in the group of inborn errors of metabolism. Finally, the annexes of the thesis reveal the dissemination of the work among the scientific communities and the empowering of families.

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/669894Test

المؤلفون: Castells, Aina-Alba, Balada, Rafel, Tristán Noguero, Alba, O’Callaghan, Mar, Cortès i Saladelafont, Elisenda, Pascual Alonso, Ainhoa, Garcia Cazorla, Àngels, Armstrong, Judith, Alcántara Horrillo, Soledad

المصدر: Articles publicats en revistes (Patologia i Terapèutica Experimental)

مصطلحات موضوعية: Síndrome de Rett, Marcadors bioquímics, Rett syndrome, Biochemical markers

الوصف: Methyl-CpG-binding protein 2 (MeCP2) is an X-linked epigenetic modulator whose dosage is critical for neural development and function. Loss-of-function mutations in MECP2 cause Rett Syndrome (RTT, OMIM #312750) while duplications in the Xq28 locus containing MECP2 and Interleukin-1 receptor-associated kinase 1 (IRAK1) cause MECP2 duplication syndrome (MDS, OMIM #300260). Both are rare neurodevelopmental disorders that share clinical symptoms, including intellectual disability, loss of speech, hand stereotypies, vasomotor deficits and seizures. The main objective of this exploratory study is to identify novel signaling pathways and potential quantitative biomarkers that could aid early diagnosis and/or the monitoring of disease progression in clinical trials. We analyzed by RT-PCR gene expression in whole blood and microRNA (miRNA) expression in plasma, in a cohort of 20 females with Rett syndrome, 2 males with MECP2 duplication syndrome and 28 healthy controls, and correlated RNA expression with disease and clinical parameters. We have identified a set of potential biomarker panels for RTT diagnostic and disease stratification of patients with microcephaly and vasomotor deficits. Our study sets the basis for larger studies leading to the identification of specific miRNA signatures for early RTT detection, stratification, disease progression and segregation from other neurodevelopmental disorders. Nevertheless, these data will require verification and validation in further studies with larger sample size including a whole range of ages.

وصف الملف: 22 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.3390/biomedicines9020148Test; Biomedicines, 2021, vol. 9, num. 2; https://doi.org/10.3390/biomedicines9020148Test; http://hdl.handle.net/2445/175824Test

الإتاحة: https://doi.org/10.3390/biomedicines9020148Test
http://hdl.handle.net/2445/175824Test

المؤلفون: Castells, Aina-Alba, Gueraldi, Daniela, Balada Caballé, Rafael, Tristán Noguero, Alba, Cortès i Saladelafont, Elisenda, Ramos, Federico, Meavilla, Silvia, De Los Santos, Mariela, Garcia-Volpe, Camila, Colomé, Roser, Couce, Maria Luz, Sierra, Cristina, Ormazabal Herrero, Aida, Batllori, Marta, Artuch Iriberri, Rafael, Armstrong, Judith, Alcántara Horrillo, Soledad, Garcia-Cazorla, Àngels

المصدر: Articles publicats en revistes (Patologia i Terapèutica Experimental)

مصطلحات موضوعية: Errors congènits del metabolisme, Aminoàcids, Neuropsiquiatria, Lesions cerebrals, Inborn errors of metabolism, Amino acids, Neuropsychiatry, Brain damage

الوصف: Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression of brain-derived neurotrophic factor (BDNF) and 10 genes required for correct brain functioning in plasma and blood of patients with Urea Cycle Disorders (UCD), Maple Syrup Urine Disease (MSUD) and controls. Receiver-operating characteristic (ROC) analysis was used to evaluate sensitivity and specificity of potential biomarkers. CACNA2D2 (α2δ2 subunit of voltage-gated calcium channels) and MECP2 (methyl-CpG binding protein 2) mRNA and protein showed an excellent neural function biomarker signature (AUC ≥ 0,925) for recognition of MSUD. THBS3 (thrombospondin 3) mRNA and AABA gave a very good biomarker signature (AUC 0,911) for executive-attention deficits. THBS3, LIN28A mRNA, and alanine showed a perfect biomarker signature (AUC 1) for behavioral and mood disorders. Finally, a panel of BDNF protein and at least two large neural AAs showed a perfect biomarker signature (AUC 1) for recognition of psychomotor delay, pointing to excessive protein restriction as central causative of psychomotor delay. To conclude, our study has identified promising biomarker panels for neural function evaluation, providing a base for future studies with larger samples.

وصف الملف: 14 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1038/s41598-019-45674-2Test; Scientific Reports, 2019, vol. 9, p. 9128; https://doi.org/10.1038/s41598-019-45674-2Test; http://hdl.handle.net/2445/162604Test; 695906

الإتاحة: https://doi.org/10.1038/s41598-019-45674-2Test
http://hdl.handle.net/2445/162604Test

المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut‐Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi‐Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean‐Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco‐Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos‐Morell, Guillem, Pena‐Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl‐Bürgi, Sabine, Sokal, Etienne

المصدر: Journal of Inherited Metabolic Disease ; volume 38, issue 6, page 1157-1158 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1007/s10545-015-9868-yTest

المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiří, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Boy, S P Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès I Saladelafont, Elisenda, Couce, Maria L, De Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzík, Tomáš, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, De Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C, Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, Lund, Allan M, Garcia-Cazorla, Angeles, Garcia Cazorla, Angeles

المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, Other departments, Pediatrics

المصدر: Journal of inherited metabolic disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of inherited metabolic disease, 38(6), 1059-1074. Springer Netherlands
Journal of Inherited Metabolic Disease, 38(6), 1059-1074. Springer Netherlands

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Propionic Acidemia, Urea cycle disorder, Adolescent, Argininosuccinic Aciduria, Kaplan-Meier Estimate, Biology, Bioinformatics, Disease course, Young Adult, Neonatal Screening, Genetics, medicine, Humans, Glutaryl-CoA dehydrogenase deficiency, Registries, Clinical phenotype, Child, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders, Inborn, Genetics (clinical), Aged, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Infant, Newborn, nutritional and metabolic diseases, Infant, Optic nerve atrophy, Middle Aged, medicine.disease, Phenotype, 3. Good health, Ornithine Carbamoyltransferase Deficiency Disease, Europe, Biochemistry, Liver, Urea cycle, Child, Preschool, Chronic renal failure, Kidney Failure, Chronic, Female

الوصف: BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population. CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a51bce13d144218341e97b7e2e3d86Test

المؤلفون: Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Baric, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., Cortes I Saladelafont, Elisenda, Karall, Daniela, Muehlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Koelker, Stefan, Aksglaede,Lise, Avram,Paula, Balmaseda-Serrano,Elena, Bauchart,Eric, Blasco-A lonso,Javier, Brassier,Anaïs, Chakrapani,Anupam, Yin-Hsiu, Chien, Couce,Maria L., de Laet,Corinne, de Lonlay,Pascale, de Meirleir,Linda, Dionisi-Vici,Carlo, Dobbelaere,Dries, Garcia-Cazorla,Angeles, Gleich,Florian, Gradowska,Wanda, Grünewald,Stephanie, Haege,Gisela, Häberle,Johannes, Wuh-Liang, Hwu, Harikleia, Ioannou, Lachmann,Robin, Langereis,Eveline, Leão Teles,Elisa, López-Laso,Eduardo, Matsumoto,Shirou, de Baulny,Hélène Ogier, Ortez,Carlos, Peña Quintana, Luis, Ruiz-Gomez,Angeles, Sarajlija,Adrijan, Summar,Marshall L., Thompson,Nicholas, Vara,Roshni, Vives Pinera,Inmaculada, Williams,Monique, Zielonka, Matthias

المساهمون: 3516766, 101583, 240823, 51188, 246889, 361943, 43561, 235706, 18275, 8826250, 6229865, 316699, 636273, 7074809, 30764, 431926, 208433, 29658007, 67797, 161957, WOS:Heringer, J, WOS:Valayannopoulos, V, WOS:Lund, AM, WOS:Wijburg, FA, WOS:Freisinger, P, WOS:Baric, I, WOS:Baumgartner, MR, WOS:Burgard, P, WOS:Burlina, AB, WOS:Chapman, KA, WOS:Saladelafont, ECI, WOS:Karall, D, WOS:Muhlhausen, C, WOS:Riches, V, WOS:Schiff, M, WOS:Sykut-Cegielska, J, WOS:Walter, JH, WOS:Zeman, J, WOS:Chabrol, B, WOS:Kolker, S, BU-MED

المصدر: Journal of Inherited Metabolic Disease [ISSN 0141-8955], v. 39 (3), p. 341-353, (Mayo 2016)

مصطلحات موضوعية: 32 Ciencias médicas, 241108 Metabolismo humano, Coa Dehydrogenase-Deficiency, Propionic Acidemia, Methylmalonic Acidurias, Phenotypic Spectrum, Isovaleric Acidemia, Natural-History, Management, Children, Individuals

الوصف: To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation.Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, n = 83), and glutaric aciduria type 1 (GA1, n = 176). Statistical analysis included description and recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. For some analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO).Patients identified by newborn screening (NBS) had a significantly lower median age of diagnosis (8 days) compared to the LO group (363 days, p < 0.001], but not compared to the EO group. Of all OAD patients 71 % remained asymptomatic until day 8. Patients with cobalamin-nonresponsive MMA (MMA-Cbl(-)) and GA1 identified by NBS were less likely to have movement disorders than those diagnosed by selective screening (MMA-Cbl(-): 10 % versus 39 %, p = 0.002; GA1: 26 % versus 73 %, p < 0.001). For other OADs, the clinical benefit of NBS was less clear. Reported age-adjusted intake of natural protein and calories was significantly higher in LO patients than in EO patients reflecting different disease severities. Variable drug combinations, ranging from 12 in MMA-Cbl(-) to two in isovaleric aciduria, were used for maintenance treatment. The effects of specific metabolic treatment strategies on the health outcomes remain unclear because of the strong influences of age at onset (EO versus LO), diagnostic mode (NBS versus selective screening), and the various treatment combinations used.NBS is an effective intervention to reduce time until diagnosis especially for LO patients and to prevent irreversible cerebral damage in GA1 and MMA-Cbl(-). Huge diversity of therapeutic interventions hampers ...

العلاقة: Journal of Inherited Metabolic Disease; 39; WoS; http://hdl.handle.net/10553/73957Test; 000375567300003; Sí

الإتاحة: https://doi.org/10.1007/s10545-015-9907-8Test
http://hdl.handle.net/10553/73957Test

المؤلفون: Kölker, Stefan, Garcia Cazorla, Angeles, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthiais R, Blasco-Alonso, Javier, Chabrol, Brigitte, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Lachmann, Robin

المساهمون: UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie

المصدر: Journal of Inherited Metabolic Disease, (2015)

الوصف: BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific. AIMS/METHODS: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry. RESULTS: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, 548 patients (69 %) were symptomatic. The majority of them (n = 463) presented with acute metabolic crisis during (n = 220) or after the newborn period (n = 243) frequently demonstrating impaired consciousness, vomiting and/or muscular hypotonia. Neonatal onset of symptoms was most frequent in argininosuccinic synthetase and lyase deficiency and carbamylphosphate 1 synthetase deficiency, unexpectedly low in male OTC deficiency, and least frequently in GA1 and female OTC deficiency. For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be more severe in MMA and PA patients with late onset of symptoms. Symptomatic patients without metabolic crises (n = 94) often presented with a movement disorder, mental retardation, epilepsy and psychiatric disorders (the latter in UCD only). CONCLUSIONS: The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.

العلاقة: boreal:158559; http://hdl.handle.net/2078.1/158559Test; info:pmid/25875215; urn:ISSN:0141-8955; urn:EISSN:1573-2665

الإتاحة: https://doi.org/10.1007/s10545-015-9839-3Test
http://hdl.handle.net/2078.1/158559Test

المؤلفون: Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Baric, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., Cortes i Saladelafont, Elisenda, Karall, Daniela, Muehlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Koelker, Stefan, E-IMD Consortium

المصدر: Journal of Inherited Metabolic Disease [ISSN 0141-8955], v. 41 (4), p. 741-742

مصطلحات موضوعية: 32 Ciencias médicas

العلاقة: Journal of Inherited Metabolic Disease; http://hdl.handle.net/10553/42089Test; 2-s2.0-85037736855; 742; 741; 41; WOS:000438443200017

الإتاحة: https://doi.org/10.1007/s10545-017-0116-5Test
http://hdl.handle.net/10553/42089Test

المؤلفون: Kölker, Stefan, García Cazorla, Angeles, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Ogier de Baulny, Hélène, Ortez, Carlos, Peña-Quintana, Luis, Petković Ramadža, Danijela, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Vives Pinera, Inmaculada, Walter, John H., Williams, Monique, Burgard, Peter

المساهمون: 7004458958, 56596429000, 6507114277, 57205452039, 57202189512, 35894644700, 57204641431, 57204641427, 7003454408, 57215789626, 57194322144, 7101979492, 7006329633, 55197502200, 15822540900, 6506211042, 15764518100, 23059548100, 12807843600, 7101704024, 57210776027, 56071203200, 7006531746, 56215240800, 57205589940, 57205589935, 49863126500, 57209266227, 56596813800, 7003683107, 7003741746, 7005945963, 57093768200, 36972630700, 56155847800, 6603291594, 7005299518, 6603103813, 7003808409, 36623631500, 7003596979, 24474518700, 54388352300, 7004636338, 36163327600, 7404266264, 16837114500, 6602190540, 35096536300, 6603266503, 26436064300, 7102572626, 23010169300, 35380002300, 57194322361, 7003497387, 57203426455, 18435394300, 57208699708, 56596672300, 35461752100, 57200399540, 6603827252, 161957, 2944289, 101583, 240823, 18275, 431926, 51188, 1144405, 29658007, 843028, 361943, 316699, 1783161, 466226, 642281, 5254345, 34981328, 2180187, 67797, 157768, 8826250, 6229865, 30356179, 105686, 483798, 770230, 553224, 5104704, 1160444, 322307, 2497500, 166355, 1804234, 184108, 3181731, 2128922, 33627

المصدر: Journal of Inherited Metabolic Disease [ISSN 0141-8955],v. 38 (6), p. 1155-1156, (Noviembre 2015)

مصطلحات موضوعية: 3201 Ciencias clínicas

الوصف: 1156 ; 1155 ; 2

العلاقة: Journal of Inherited Metabolic Disease; 38; WoS; http://hdl.handle.net/10553/49351Test; 84945472442; 000363980800016

الإتاحة: https://doi.org/10.1007/s10545-015-9867-zTest
http://hdl.handle.net/10553/49351Test