Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.

ABSTRACT: Analyses of 19 amino acids, 38 acylcarnitines, and 3 creatine analogues (https://clir.mayo.edu) were implemented to test the hypothesis that succinic semialdehyde dehydrogenase deficiency (SSADHD) could be identified in dried bloodspots (DBS) using currently available newborn screening methodology. The study population included 17 post-newborn SSADHD DBS (age range 0.8-38 years; median, 8.2 years; 10 M; controls, 129-353 age-matched individuals, mixed gender) and 10 newborn SSADHD DBS (including first and second screens from 3 of 7 patients). Low (informative) markers in post-newborn DBS included C2- and C4-OH carnitines, ornithine, histidine and creatine, with no gender differences. For newborn DBS, informative markers included C2-, C3-, C4- and C4-OH carnitines, creatine and ornithine. O

SUBMITTER: Brown M 

PROVIDER: S-EPMC7203655 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature