Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.

ABSTRACT: Increased gamma-hydroxybutyric acid in urine and blood are metabolic hallmarks of succinic semialdehyde dehydrogenase deficiency, a defect of 4-aminobutyric acid metabolism. Here, we examined the hypothesis that succinic semialdehyde dehydrogenase deficiency could be identified via measurement of gamma-hydroxybutyric acid in newborn and post-newborn dried bloodspots. Quantitation of gamma-hydroxybutyric acid using liquid chromatography-tandem mass spectrometry in twelve archival newborn patient dried bloodspots was 360?±?57??M (mean, standard error; range 111-767), all values exceeding the previously established cutoff for newborn detection of 78 ?? established from 2831 dried bloodspots derived from newborns, neonates and children. Gamma-hydroxybutyric acid in post-newborn dried bloodspots (n?=?19; ages 0.8-38?years) was 191?±?65??M (mean, standard error; range 20-1218), exceeding the aforementioned GHB cutoff for patients approximately 10?years of age or younger. Further, gamma-hydroxybutyric acid in post-newborn dried bloodspots displayed a significant (p?

SUBMITTER: Brown M 

PROVIDER: S-EPMC6961708 | biostudies-literature | 2019 Sep - Oct

REPOSITORIES: biostudies-literature