Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia.

ABSTRACT: Precursor-to-product ratios in steroid hormone metabolism may accurately reflect enzymatic activity and production of metabolites relative to their disappearance. The purpose of this study was to explore the use of direct precursor-to-product steroid ratios to discriminate between infants with congenital adrenal hyperplasia (CAH) due to 21- α -hydroxylase deficiency and infants with no disorder, thus characterizing the biochemical phenotype in CAH. Deidentified dried blood spot samples from confirmed CAH cases identified by newborn screen (CAH-positive, N = 8) and from cases with no disorder (CAH-negative, N = 10) were obtained from the California State Newborn Screening Program. Samples (∼6.25 mm circular spots) underwent methanol and water extraction (9:1 ratio). Deuterated

SUBMITTER: Hicks RA 

PROVIDER: S-EPMC3904458 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature