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Impact of age at onset and newborn screening on outcome in organic acidurias
J. Heringer, V. Valayannopoulos, AM. Lund, FA. Wijburg, P. Freisinger, I. Barić, MR. Baumgartner, P. Burgard, AB. Burlina, KA. Chapman, EC. I Saladelafont, D. Karall, C. Mühlhausen, V. Riches, M. Schiff, J. Sykut-Cegielska, JH. Walter, J. Zeman,...
Language English Country Netherlands
Document type Journal Article, Research Support, Non-U.S. Gov't
NLK
ProQuest Central
from 1999-02-01 to 2018-11-30
Medline Complete (EBSCOhost)
from 2009-08-01 to 1 year ago
Health & Medicine (ProQuest)
from 1999-02-01 to 2018-11-30
- MeSH
- Child MeSH
- Adult MeSH
- Glutaryl-CoA Dehydrogenase deficiency metabolism MeSH
- Infant MeSH
- Methylmalonic Acid metabolism MeSH
- Middle Aged MeSH
- Humans MeSH
- Intellectual Disability metabolism pathology MeSH
- Brain Diseases, Metabolic, Inborn metabolism pathology MeSH
- Brain Diseases, Metabolic metabolism pathology MeSH
- Metabolic Diseases metabolism pathology MeSH
- Adolescent MeSH
- Young Adult MeSH
- Infant, Newborn MeSH
- Neonatal Screening methods MeSH
- Child, Preschool MeSH
- Age of Onset MeSH
- Vitamin B 12 metabolism MeSH
- Amino Acid Metabolism, Inborn Errors metabolism pathology MeSH
- Amino Acid Transport Disorders, Inborn metabolism pathology MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. METHODS: 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). RESULTS: 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. CONCLUSIONS: 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 our understanding of optimal treatment.
1st Faculty of Medicine Charles University and General University of Prague Prague Czech Republic
Birmingham Children's Hospital NHS Foundation Trust Birmingham UK
Children's National Medical Center 111 Michigan Avenue N W Washington DC 20010 USA
Department of Pediatrics Academic Medical Center Amsterdam Netherlands
Hospital San Joan de Deu Servicio de Neurologia and CIBERER ISCIII Barcelona Spain
Klinik für Kinder und Jugendmedizin Universitätsklinikum Hamburg Eppendorf Hamburg Germany
Klinikum am Steinenberg Klinik für Kinder und Jugendmedizin Reutlingen Germany
School of Medicine University Hospital Center Zagreb and University of Zagreb Zagreb Croatia
Screening Department Institute of Mother and Child Warsaw Poland
U O C Malattie Metaboliche Ereditarie Azienda Ospedaliera di Padova Padova Italy
References provided by Crossref.org
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