Impact of age at onset and newborn screening on outcome in organic acidurias

• Published in: Journal of inherited metabolic disease 2016-05, Vol.39 (3), p.341-353
• Main Authors: Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors - metabolism; Amino Acid Metabolism, Inborn Errors - pathology; Amino Acid Transport Disorders, Inborn - metabolism; Amino Acid Transport Disorders, Inborn - pathology; Biochemistry; Brain Diseases, Metabolic - metabolism; Brain Diseases, Metabolic - pathology; Brain Diseases, Metabolic, Inborn - metabolism; Brain Diseases, Metabolic, Inborn - pathology; Child; Child, Preschool; Female; Glutaryl-CoA Dehydrogenase - deficiency; Glutaryl-CoA Dehydrogenase - metabolism; Human Genetics; Humans; Infant; Infant, Newborn; Intellectual Disability - metabolism; Intellectual Disability - pathology; Internal Medicine; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Metabolic Diseases - metabolism; Metabolic Diseases - pathology; Methylmalonic Acid - metabolism; Middle Aged; Neonatal Screening - methods; Original Article; Pediatrics; Vitamin B 12 - metabolism; Young Adult
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-015-9907-8

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