Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

ABSTRACT: 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

SUBMITTER: Kuseyri Hubschmann O 

PROVIDER: S-EPMC8452745 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature