Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl‐CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy,...

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Veröffentlicht in:	Journal of inherited metabolic disease 2021-05, Vol.44 (3), p.629-638
Hauptverfasser:	Märtner, E. M. Charlotte, Maier, Esther M., Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A., Marquardt, Thorsten, Santer, René, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Vossbeck, Judith, Steinfeld, Robert, Baumgartner, Matthias R., Beblo, Skadi, Dieckmann, Andrea, Näke, Andrea, Lindner, Martin, Heringer‐Seifert, Jana, Lenz, Dominic, Hoffmann, Georg F., Mühlhausen, Chris, Ensenauer, Regina, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas
Format:	Artikel
Sprache:	eng
Schlagworte:	Aciduria Adolescent Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - therapy anthropometrics Anthropometry biochemical subtype Body Height Body length Body Mass Index Body measurements Body Weight Brain Diseases, Metabolic - diagnosis Brain Diseases, Metabolic - therapy Child Child, Preschool development diet Dystonia Dystonia - pathology Emergency Treatment Female Germany glutaric acidemia type 1 glutaric aciduria type 1 Glutaryl-CoA Dehydrogenase - deficiency Humans Infant Infant, Newborn Lysine Macrocephaly Male Medical screening Megalencephaly - pathology Metabolic disorders Movement disorders Neonatal Screening newborn screening Nutrient deficiency Phenotypes Prospective Studies Sex Factors Young Adult
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