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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S. Kölker, V. Valayannopoulos, AB. Burlina, J. Sykut-Cegielska, FA. Wijburg, EL. Teles, J. Zeman, C. Dionisi-Vici, I. Barić, D. Karall, JB. Arnoux, P. Avram, MR. Baumgartner, J. Blasco-Alonso, SP. Boy, MB. Rasmussen, P. Burgard, B. Chabrol, A....
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
- argininjantarová acidurie diagnóza MeSH
- chronické selhání ledvin komplikace MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- glutaryl-CoA-dehydrogenasa nedostatek MeSH
- játra metabolismus MeSH
- Kaplanův-Meierův odhad MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- metabolické nemoci mozku diagnóza MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nemoc z nedostatku ornithinkarbamoyltransferázy diagnóza MeSH
- novorozenec MeSH
- novorozenecký screening MeSH
- předškolní dítě MeSH
- propionová acidemie diagnóza MeSH
- registrace MeSH
- senioři MeSH
- vrozené poruchy cyklu močoviny diagnóza MeSH
- vrozené poruchy metabolismu aminokyselin diagnóza 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 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.
1st Faculty of Medicine Charles University and General University of Prague Prague Czech Republic
Azienda Ospedaliera di Padova U O C Malattie Metaboliche Ereditarie Padova Italy
Birmingham Children's Hospital NHS Foundation Trust Steelhouse Lane Birmingham B4 6NH 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 Hospital Universitari Germans Trias 1 Pujol Badalona Spain
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 United Kingdom
Hôpital Robert Debré Université de Paris Paris France
Hospital Materno Infantil Málaga Spain
Hospital San Joan de Deu Servicio de Neurologia and CIBERER ISCIII Barcelona Spain
Hospital Virgen de la Arrixaca de Murcia Inborn Metabolic Disease Unit El Palmar Spain
Institute of Mother and Child Care Alfred Rusescu Bucharest Romania
N 1 R M A N Om Rachna Society Vashi Navi Mumbai Mumbai India
National Hospital for Neurology and Neurosurgery Charles Dent Metabolic Unit London UK
Ospedale Pediatrico Bambino Gésu U O C Patologia Metabolica Rome Italy
School of Medicine University Hospital Center Zagreb and University of Zagreb Zagreb Croatia
Screening Department Institute of Mother and Child Warsaw Poland
Unidade de Doenças Metabólicas Serviço de Pediatria Hospital de S João EPE Porto Portugal
Universitätsklinikum Hamburg Eppendorf Klinik für Kinder und Jugendmedizin Hamburg Germany
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, 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 2: the evolving clinical phenotype / $c S. Kölker, V. Valayannopoulos, AB. Burlina, J. Sykut-Cegielska, FA. Wijburg, EL. Teles, J. Zeman, C. Dionisi-Vici, I. Barić, D. Karall, JB. Arnoux, P. Avram, MR. Baumgartner, J. Blasco-Alonso, SP. Boy, MB. Rasmussen, P. Burgard, B. Chabrol, A. Chakrapani, K. Chapman, E. Cortès I Saladelafont, ML. Couce, L. de Meirleir, D. Dobbelaere, F. Furlan, F. Gleich, MJ. González, W. Gradowska, S. Grünewald, T. Honzik, F. Hörster, H. Ioannou, A. Jalan, J. Häberle, G. Haege, E. Langereis, P. de Lonlay, D. Martinelli, S. Matsumoto, C. Mühlhausen, E. Murphy, HO. de Baulny, C. Ortez, CC. Pedrón, G. Pintos-Morell, L. Pena-Quintana, DP. Ramadža, E. Rodrigues, S. Scholl-Bürgi, E. Sokal, ML. Summar, N. Thompson, R. Vara, IV. Pinera, JH. Walter, M. Williams, AM. Lund, A. Garcia-Cazorla, A. Garcia Cazorla,
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- $a 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.
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