RT Journal Article
T1 Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
A1 Kuseyri Hübschmann, Oya
A1 Horvath, Gabriella
A1 Cortès-Saladelafont, Elisenda
A1 Yıldız, Yılmaz
A1 Mastrangelo, Mario
A1 Pons, Roser
A1 Friedman, Jennifer
A1 Mercimek-Andrews, Saadet
A1 Wong, Suet-Na
A1 Pearson, Toni S
A1 Zafeiriou, Dimitrios I
A1 Kulhánek, Jan
A1 Kurian, Manju A
A1 López-Laso, Eduardo
A1 Oppebøen, Mari
A1 Kılavuz, Sebile
A1 Wassenberg, Tessa
A1 Goez, Helly
A1 Scholl-Bürgi, Sabine
A1 Porta, Francesco
A1 Honzík, Tomáš
A1 Santer, René
A1 Burlina, Alberto
A1 Sivri, H Serap
A1 Leuzzi, Vincenzo
A1 Hoffmann, Georg F
A1 Jeltsch, Kathrin
A1 Hübschmann, Daniel
A1 Garbade, Sven F
A1 iNTD Registry Study Group, 
A1 García-Cazorla, Angeles
A1 Opladen, Thomas
AB Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.
YR 2021
FD 2021-09-20
LK https://hdl.handle.net/10668/28273
UL https://hdl.handle.net/10668/28273
LA en
DS RISalud
RD Apr 7, 2025