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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
S. Kölker, A. Garcia-Cazorla, AG. Cazorla, V. Valayannopoulos, AM. Lund, AB. Burlina, J. Sykut-Cegielska, FA. Wijburg, EL. Teles, J. Zeman, C. Dionisi-Vici, I. Barić, D. Karall, P. Augoustides-Savvopoulou, L. Aksglaede, JB. Arnoux, P. Avram, MR....
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
ProQuest Central
od 1999-02-01 do 2018-11-30
Medline Complete (EBSCOhost)
od 2009-08-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 1999-02-01 do 2018-11-30
- MeSH
- dítě MeSH
- dospělí MeSH
- glutaryl-CoA-dehydrogenasa nedostatek MeSH
- hyperamonemie diagnóza MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mentální retardace MeSH
- metabolické nemoci mozku diagnóza MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nemoc z nedostatku ornithinkarbamoyltransferázy diagnóza MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- registrace MeSH
- senioři MeSH
- vrozené poruchy cyklu močoviny diagnóza MeSH
- vrozené poruchy metabolismu aminokyselin diagnóza MeSH
- zvracení MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
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.
1st Faculty of Medicine Charles University and General University of Prague Prague Czech Republic
Birmingham Children's Hospital NHS Foundation Trust Steelhouse Lane Birmingham B4 6NH UK
Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery London UK
Children's National Medical Center 111 Michigan Avenue N W Washington DC 20010 USA
Department of Laboratory Diagnostics The Children's Memorial Health Institute Warsaw Poland
Department of Pediatrics Academisch Medisch Centrum Amsterdam Netherlands
Department of Pediatrics Kumamoto University Hospital Kumamoto City Japan
Erasmus MC Sophia Kinderziekenhuis Erasmus Universiteit Rotterdam Rotterdam Netherlands
Evelina Children's Hospital St Thomas' Hospital London UK
Hôpital Robert Debré Université de Paris Paris France
Hospital Materno Infantil Málaga Spain
Inborn Metabolic Disease Unit Hospital Virgen de la Arrixaca de Murcia El Palmar Spain
Institute of Mother and Child Care Alfred Rusescu Bucharest Romania
Klinik für Kinder und Jugendmedizin Universitätsklinikum Hamburg Eppendorf Hamburg Germany
N 1 R M A N Om Rachna Society Vashi Navi Mumbai Mumbai India
School of Medicine University Hospital Center Zagreb and University of Zagreb Zagreb Croatia
Screening Department Institute of Mother and Child Warsaw Poland
Servicio de Neurologia and CIBERER ISCIII Hospital San Joan de Deu Barcelona Spain
U O C Malattie Metaboliche Ereditarie Azienda Ospedaliera di Padova Padova Italy
U O C Patologia Metabolica Ospedale Pediatrico Bambino Gésu Rome Italy
Unidade de Doenças Metabólicas Serviço de Pediatria Hospital de S João EPE Porto Portugal
University Hospital Center Zagreb Zagreb Croatia
University Hospital Vrije Universiteit Brussel Bruxelles Belgium
Citace poskytuje Crossref.org
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- $a Kölker, Stefan $u Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. Stefan.Koelker@med.uni-heidelberg.de.
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- $a The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation / $c S. Kölker, A. Garcia-Cazorla, AG. Cazorla, V. Valayannopoulos, AM. Lund, AB. Burlina, J. Sykut-Cegielska, FA. Wijburg, EL. Teles, J. Zeman, C. Dionisi-Vici, I. Barić, D. Karall, P. Augoustides-Savvopoulou, L. Aksglaede, JB. Arnoux, P. Avram, MR. Baumgartner, J. Blasco-Alonso, B. Chabrol, A. Chakrapani, K. Chapman, EC. I Saladelafont, ML. Couce, L. de Meirleir, D. Dobbelaere, V. Dvorakova, F. Furlan, F. Gleich, W. Gradowska, S. Grünewald, A. Jalan, J. Häberle, G. Haege, R. Lachmann, A. Laemmle, E. Langereis, P. de Lonlay, D. Martinelli, S. Matsumoto, C. Mühlhausen, HO. de Baulny, C. Ortez, L. Peña-Quintana, DP. Ramadža, E. Rodrigues, S. Scholl-Bürgi, E. Sokal, C. Staufner, ML. Summar, N. Thompson, R. Vara, IV. Pinera, JH. Walter, M. Williams, P. Burgard,
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- $a 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.
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